HBB (hemoglobin subunit beta)

Gene

• Entrez ID: 3043
• Gene name: Hemoglobin subunit beta
• Gene symbol: HBB
• Synonyms (NCBI Gene): CD113t-C, ECYT6, beta-globin
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs334	T>A,C,G	Protective, pathogenic, other	Missense variant, coding sequence variant
rs1135071	C>A,G,T	Pathogenic, uncertain-significance	Synonymous variant, missense variant, coding sequence variant
rs1141387	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs11549407	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs33910209	G>C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, missense variant
rs33910569	T>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33913413	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant
rs33913712	C>A,T	Pathogenic, uncertain-significance, other	Coding sequence variant, stop gained, missense variant
rs33914668	T>C,G	Pathogenic	Splice acceptor variant
rs33914944	C>A,G,R,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant, synonymous variant
rs33915112	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33915217	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic	Intron variant
rs33916412	A>C,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33917628	C>G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33917785	A>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33918338	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33918343	A>C,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33921821	G>A,T	Pathogenic, other	Coding sequence variant, missense variant
rs33922842	C>A,G,T	Benign, pathogenic	Coding sequence variant, stop gained, missense variant
rs33922873	G>A,T	Pathogenic, other	Coding sequence variant, missense variant
rs33924146	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs33924775	G>A,C,T	Pathogenic, other	Coding sequence variant, missense variant
rs33925391	A>C,G,T	Uncertain-significance, likely-benign, pathogenic, other, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs33929459	C>A,G,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant
rs33930165	C>G,T	Pathogenic, protective, other	Coding sequence variant, missense variant
rs33930702	C>A,G,T	Pathogenic	Missense variant, initiator codon variant
rs33931746	T>C,G	Pathogenic, pathogenic-likely-pathogenic	Upstream transcript variant
rs33931779	A>G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33933298	C>A,T	Pathogenic, other	Coding sequence variant, missense variant
rs33935673	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs33936254	T>A,C,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, other, benign	Coding sequence variant, missense variant
rs33937393	T>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33940051	T>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33940204	A>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33941377	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Upstream transcript variant
rs33941844	A>C,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33941849	A>C,G,T	Pathogenic, likely-pathogenic	Missense variant, initiator codon variant
rs33943001	C>G,T	Pathogenic	Splice acceptor variant
rs33944208	G>A,C,T	Pathogenic, likely-pathogenic	Upstream transcript variant
rs33945777	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs33946267	C>A,G,T	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, stop gained, missense variant
rs33947020	C>A,G,T	Conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, missense variant
rs33947415	C>G,T	Uncertain-significance, other, pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs33949486	C>G,T	Benign, likely-benign, pathogenic	Coding sequence variant, missense variant
rs33949869	A>C,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33950507	C>A,G,T	Pathogenic, protective, other	Coding sequence variant, stop gained, missense variant
rs33951465	A>C,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant
rs33951978	T>A,G	Pathogenic, other	Coding sequence variant, missense variant
rs33952266	C>A,G,T	Pathogenic	Splice acceptor variant
rs33954264	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33954595	C>A,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33956879	A>C,G,T	Pathogenic	Splice donor variant
rs33958358	C>A,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant
rs33959340	C>A,G,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant
rs33959855	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, stop gained, missense variant
rs33960103	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs33961444	G>A,C	Pathogenic, other	Coding sequence variant, missense variant
rs33961886	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, other, benign	Coding sequence variant, missense variant
rs33962676	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, missense variant
rs33965000	G>A,C	Pathogenic, other	Coding sequence variant, missense variant
rs33966487	C>G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33966761	A>C,G,T	Pathogenic, uncertain-significance, other	Coding sequence variant, missense variant
rs33969677	C>A,G,T	Pathogenic, likely-pathogenic, other	Coding sequence variant, missense variant
rs33969853	->T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs33971048	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33971440	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs33972047	T>C	Pathogenic, other	Coding sequence variant, missense variant
rs33972593	A>G,T	Pathogenic, other	Coding sequence variant, missense variant
rs33974936	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs33978338	A>C,G,T	Likely-pathogenic, other	Coding sequence variant, missense variant
rs33978907	A>G,T	Pathogenic, pathogenic-likely-pathogenic	3 prime UTR variant
rs33980857	A>C,G,T	Pathogenic, pathogenic-likely-pathogenic	Upstream transcript variant
rs33981098	T>C,G	Pathogenic	Upstream transcript variant
rs33982568	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs33983205	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33983276	G>A,C,T	Pathogenic, uncertain-significance, likely-pathogenic, other	Coding sequence variant, missense variant
rs33985472	T>C	Pathogenic, likely-pathogenic	3 prime UTR variant
rs33986703	T>A,C,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs33987903	T>A,C,G	Pathogenic, other	Coding sequence variant, missense variant
rs33991059	C>G,T	Pathogenic, other	Coding sequence variant, missense variant, stop gained
rs33991472	G>C,T	Pathogenic, other	Coding sequence variant, missense variant
rs33991993	C>A,G,R,T	Pathogenic, other, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs33993004	G>C,T	Pathogenic, other	Coding sequence variant, missense variant
rs33994806	G>A,C,T	Pathogenic, likely-pathogenic	Upstream transcript variant
rs33995148	T>A,C,G	Pathogenic, uncertain-significance, other	Coding sequence variant, stop gained, missense variant
rs33999427	->TG	Pathogenic, other	Coding sequence variant, frameshift variant, stop lost
rs34083951	G>A,C,T,Y	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs34135787	G>A,C	Pathogenic	5 prime UTR variant
rs34160180	AAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs34165323	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs34218908	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs34282684	AC>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs34305195	T>G	Pathogenic, pathogenic-likely-pathogenic	5 prime UTR variant
rs34378160	A>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs34451549	G>A	Pathogenic	Intron variant
rs34483965	G>A,C,T	Pathogenic, uncertain-significance, likely-pathogenic	Intron variant
rs34484056	A>T	Pathogenic	Coding sequence variant, missense variant
rs34500389	G>A,T	Pathogenic, uncertain-significance	Upstream transcript variant
rs34502690	CCT>-	Pathogenic	Coding sequence variant, inframe indel
rs34515413	G>A,C,T,Y	Likely-benign, other, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs34527846	A>C,G,T	Pathogenic	Intron variant
rs34533941	->CA	Pathogenic	Coding sequence variant, frameshift variant
rs34563000	T>C	Pathogenic	Missense variant, initiator codon variant
rs34598529	T>C	Pathogenic	Upstream transcript variant
rs34690599	G>A,C	Pathogenic	Intron variant
rs34704828	C>A,T	Pathogenic	5 prime UTR variant
rs34716011	C>T	Pathogenic	Coding sequence variant, stop gained
rs34718174	C>G,T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs34750035	TC>-	Pathogenic	Intron variant
rs34793594	A>C	Pathogenic	Intron variant
rs34809925	G>A,C,T	Pathogenic	3 prime UTR variant
rs34856846	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs34868397	G>C	Pathogenic	Coding sequence variant, missense variant
rs34883338	G>A	Pathogenic, uncertain-significance	Upstream transcript variant
rs34889882	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs34933751	G>A,C,T,Y	Conflicting-interpretations-of-pathogenicity, other	Coding sequence variant, missense variant, synonymous variant
rs34937014	->T	Pathogenic	Coding sequence variant, frameshift variant
rs34948328	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs34980264	C>T	Pathogenic, other	Coding sequence variant, missense variant
rs34999973	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Upstream transcript variant
rs35004220	C>T	Pathogenic	Intron variant
rs35020585	C>A,G,T	Pathogenic, not-provided, other	Coding sequence variant, missense variant, synonymous variant
rs35067717	G>C	Pathogenic, other	Coding sequence variant, missense variant
rs35117167	T>C	Pathogenic, other	Coding sequence variant, missense variant
rs35209591	C>A,G,T	Pathogenic, other	Coding sequence variant, missense variant, synonymous variant
rs35225141	->C	Pathogenic	Coding sequence variant, frameshift variant
rs35256489	A>G	Pathogenic, other	Coding sequence variant, missense variant
rs35291591	A>T	Pathogenic, other	Coding sequence variant, stop gained
rs35328027	A>C,G	Pathogenic, likely-benign	Intron variant
rs35348864	->GCC	Pathogenic	Coding sequence variant, splice acceptor variant
rs35351128	T>G	Pathogenic, other	Coding sequence variant, missense variant
rs35352549	A>-	Pathogenic	5 prime UTR variant
rs35383398	->C	Pathogenic	Coding sequence variant, frameshift variant
rs35395625	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs35424040	C>A,G,T	Pathogenic, likely-pathogenic, other	Coding sequence variant, missense variant
rs35456885	A>C,G,T	Pathogenic, likely-benign, likely-pathogenic	Intron variant
rs35477349	->A	Pathogenic	Coding sequence variant, frameshift variant
rs35485099	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs35497102	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs35532010	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs35578002	G>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant
rs35619054	->AGAT	Pathogenic	Coding sequence variant, frameshift variant
rs35662066	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs35684407	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs35693898	A>G	Pathogenic	Coding sequence variant, missense variant
rs35699606	->C	Pathogenic	Coding sequence variant, frameshift variant
rs35703285	A>C	Pathogenic	Intron variant
rs35724775	A>G,T	Pathogenic, uncertain-significance	Intron variant
rs35799536	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs35849199	A>C,G	Pathogenic, other	Coding sequence variant, missense variant
rs35890959	C>A,G,T	Pathogenic, other	Coding sequence variant, missense variant
rs35894115	->T	Pathogenic	Coding sequence variant, frameshift variant
rs35949130	TTATT>-	Pathogenic	3 prime UTR variant
rs36015961	A>G	Pathogenic, other	Coding sequence variant, missense variant
rs36107977	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs41417446	AAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs41443947	AG>C	Pathogenic	Coding sequence variant, frameshift variant
rs63749819	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749960	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750099	TGGGTCC>-	Pathogenic	Coding sequence variant, stop gained
rs63750128	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750205	AT>-	Likely-pathogenic	3 prime UTR variant
rs63750223	CAGCCTAAGGGTGGGAAAATAGACC>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs63750283	A>C,G,T	Likely-pathogenic	Splice donor variant
rs63750400	C>G,T	Uncertain-significance, likely-pathogenic	Upstream transcript variant
rs63750475	C>-	Pathogenic	Frameshift variant, initiator codon variant
rs63750513	T>C,G	Pathogenic	Splice acceptor variant
rs63750532	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750681	C>G	Pathogenic, uncertain-significance	Upstream transcript variant
rs63750783	C>T	Pathogenic	Coding sequence variant, stop gained
rs63750860	CAGC>TGTGG	Pathogenic	Coding sequence variant, frameshift variant
rs63750953	TT>-	Likely-pathogenic	Upstream transcript variant
rs63750954	T>A,C	Pathogenic	3 prime UTR variant
rs63751076	ACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCA>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs63751128	T>C	Pathogenic, pathogenic-likely-pathogenic	3 prime UTR variant
rs63751175	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs63751201	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751208	G>A	Pathogenic	Upstream transcript variant
rs63751218	TCACT>A	Pathogenic	Coding sequence variant, frameshift variant
rs80356820	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs80356821	AGAA>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs111645889	G>A,T	Other, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140033163	C>G	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs145669504	G>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs191535077	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs193922552	TC>AT	Likely-pathogenic	Coding sequence variant, missense variant
rs193922553	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922555	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs193922563	GCCTAAGGGTGGGAAAATAGACCAA>-,GCCTAAGGGTGGGAAAATAGACCAAGCCTAAGGGTGGGAAAATAGACCAA	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs267607291	GG>-,G	Pathogenic	Coding sequence variant, frameshift variant
rs267607297	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs281864518	G>A	Likely-pathogenic	Upstream transcript variant
rs281864530	A>T	Pathogenic	Stop gained, coding sequence variant
rs281864581	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs281864901	G>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs281865475	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs370075492	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs558554234	G>A	Likely-benign, pathogenic	Intron variant
rs560643693	A>C	Conflicting-interpretations-of-pathogenicity, benign	Downstream transcript variant
rs762782573	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs769583496	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs781604042	A>G	Likely-pathogenic	Intron variant
rs1034207896	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1170203019	A>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1554917561	GTGGGGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554917831	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554917888	->A	Pathogenic	Coding sequence variant, stop gained
rs1554917935	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554917947	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554918032	CTAAGGGTGGGAAAATA>-	Pathogenic	Splice acceptor variant, intron variant
rs1554918165	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554918214	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564874813	A>-	Likely-pathogenic	Splice donor variant
rs1564874901	->GTGC	Pathogenic	Coding sequence variant, frameshift variant
rs1564875128	->CATC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564875145	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564875331	CATAA>TGATGCC	Pathogenic	Coding sequence variant, frameshift variant
rs1564875707	CCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGG	Pathogenic	Initiator codon variant, 5 prime UTR variant, upstream transcript variant, intron variant, splice donor variant
rs1589891039	CAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCC	Pathogenic	Terminator codon variant, splice acceptor variant, intron variant, 3 prime UTR variant
rs1589892417	->CCAC	Pathogenic	Coding sequence variant, frameshift variant
rs1589892882	->AGAT	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049575	hsa-miR-92a-3p	CLASH	23622248
MIRT2008691	hsa-miR-3914	CLIP-seq
MIRT2008692	hsa-miR-633	CLIP-seq
MIRT2008691	hsa-miR-3914	CLIP-seq
MIRT2008692	hsa-miR-633	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPB	Unknown	15833715
CEBPG	Unknown	15833715
GATA1	Unknown	15833715;20564185
KLF1	Unknown	21539536
NFE2L2	Unknown	15206576
NFYA	Unknown	15833715
NFYB	Unknown	15833715
NFYC	Unknown	15833715
POU2F2	Unknown	2302733

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004601	Function	Peroxidase activity	IDA	19740759
GO:0005344	Function	Oxygen carrier activity	IBA
GO:0005344	Function	Oxygen carrier activity	IEA
GO:0005344	Function	Oxygen carrier activity	NAS	1301199, 11747442
GO:0005515	Function	Protein binding	IPI	1552945, 6683087, 9441940, 9830011, 9894000, 10390349, 10930828, 11159543, 11724557, 15835899, 16169070, 25502805, 28514442, 28665412, 29997244, 30833564, 31515488, 32296183, 33961781, 37398436
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	21805676
GO:0005829	Component	Cytosol	TAS
GO:0005833	Component	Hemoglobin complex	IBA
GO:0005833	Component	Hemoglobin complex	IDA	19740759
GO:0005833	Component	Hemoglobin complex	IEA
GO:0005833	Component	Hemoglobin complex	IPI	8114096, 16765986, 24100324
GO:0005833	Component	Hemoglobin complex	NAS	1301199, 10588683
GO:0005833	Component	Hemoglobin complex	TAS	1540659
GO:0006954	Process	Inflammatory response	IDA	19740759
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0015670	Process	Carbon dioxide transport	NAS	7518430, 8114096, 11159543
GO:0015671	Process	Oxygen transport	IBA
GO:0015671	Process	Oxygen transport	IDA	11159543
GO:0015671	Process	Oxygen transport	IEA
GO:0015671	Process	Oxygen transport	IMP	7518430
GO:0015671	Process	Oxygen transport	NAS	1301199, 8114096, 11747442
GO:0015671	Process	Oxygen transport	TAS	1540659
GO:0019825	Function	Oxygen binding	IDA	11747442, 28066926
GO:0019825	Function	Oxygen binding	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0030185	Process	Nitric oxide transport	IDA	8292032
GO:0030185	Process	Nitric oxide transport	NAS	8292032
GO:0030492	Function	Hemoglobin binding	IDA	1512262
GO:0031720	Function	Haptoglobin binding	IDA	19740759
GO:0031721	Function	Hemoglobin alpha binding	IBA
GO:0031838	Component	Haptoglobin-hemoglobin complex	IBA
GO:0031838	Component	Haptoglobin-hemoglobin complex	IDA	19740759
GO:0042542	Process	Response to hydrogen peroxide	IDA	19740759
GO:0042744	Process	Hydrogen peroxide catabolic process	IDA	19740759
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	NAS	7965120
GO:0046872	Function	Metal ion binding	IEA
GO:0048821	Process	Erythrocyte development	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070293	Process	Renal absorption	IMP	18465053, 18974585
GO:0070527	Process	Platelet aggregation	HMP	23382103
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 141900
• HGNC: 4827
• e!Ensembl: ENSG00000244734

Protein

• UniProt ID: P68871
• Protein name: Hemoglobin subunit beta (Beta-globin) (Hemoglobin beta chain) [Cleaved into: LVV-hemorphin-7; Spinorphin]
• Protein function: Involved in oxygen transport from the lung to the various peripheral tissues. ; LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.; [Spinorphin]: Functi
• PDB: 1A00, 1A01, 1A0U, 1A0Z, 1A3N, 1A3O, 1ABW, 1ABY, 1AJ9, 1B86, 1BAB, 1BBB, 1BIJ, 1BUW, 1BZ0, 1BZ1, 1BZZ, 1C7B, 1C7C, 1C7D, 1CBL, 1CBM, 1CH4, 1CLS, 1CMY, 1COH, 1DKE, 1DXT, 1DXU, 1DXV, 1FN3, 1G9V, 1GBU, 1GBV, 1GLI, 1GZX, 1HAB, 1HAC, 1HBA, 1HBB, 1HBS, 1HCO, 1HDB, 1HGA, 1HGB, 1HGC, 1HHO, 1IRD, 1J3Y, 1J3Z, 1J40
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00042	Globin	8 → 112	Globin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Red blood cells. {ECO:0000269|PubMed:6539334}.
• Sequence:

  MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPK
  VKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFG
  KEFTPPVQAAYQKVVAGVANALAHKYH

• Sequence length: 147

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	Pathogenic	rs33915112	RCV000016820
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs33913413	RCV005887530
alpha Thalassemia	Likely pathogenic; Pathogenic	rs33930165, rs33950507, rs11549407	RCV005357128 RCV005357129 RCV001197268
Anemia	Pathogenic	rs33950507	RCV000853358
Atypical hemolytic-uremic syndrome	Likely pathogenic	rs33972593	RCV003447476
beta Thalassemia	Likely pathogenic; Pathogenic	rs2133588176, rs750606223, rs2133587981, rs33945777, rs33994806, rs33930165, rs33917628, rs33946267, rs33950507, rs34378160, rs33960103, rs35424040, rs33933298, rs33922873, rs33972047, rs33969677, rs35256489, rs33986703, rs11549407, rs63750783, rs33974936, rs33922842, rs33995148, rs33982568, rs35497102, rs35662066, rs80356820, rs80356821, rs63749819, rs33969853, rs281864901, rs34889882, rs34856846, rs267607297, rs35383398, rs63750099, rs36107977, rs63750532, rs35532010, rs1554917888, rs33941849, rs33971440, rs1554918032, rs193922563, rs63751076, rs33943001, rs33915217, rs35724775, rs33913413, rs35004220, rs34690599, rs34451549, rs33951465, rs33944208, rs63751208, rs34883338, rs33941377, rs33981098, rs33980857, rs34598529, rs33931746, rs33985472, rs33925391, rs35894115, rs63751128, rs33913712, rs35949130, rs63750475, rs33952266, rs36015961, rs34999973, rs34750035, rs33930702, rs33910569, rs267607291, rs63751218, rs63750513, rs35477349, rs33914668, rs34809925, rs34135787, rs34704828, rs35225141, rs63750283, rs35619054, rs34563000, rs33991059, rs34305195, rs193922552, rs193922553, rs34282684, rs193922555, rs35699606, rs34937014, rs35328027, rs35703285, rs33978907, rs33956879, rs34527846, rs34716011, rs63749960, rs63750128, rs1847516043, rs1554917561, rs34218908, rs1554918165, rs35456885, rs35684407, rs1564875707, rs1564875331, rs1564874901, rs63750205, rs281865475, rs35395625, rs1564874813, rs63750223, rs281864518, rs35755331, rs281864532, rs1847518799, rs34171453, rs1847520793, rs281864497, rs1847523960, rs33953406, rs281864531, rs33910209, rs34363638, rs281864544, rs281864528, rs63751306, rs281864527, rs33930977, rs63750556, rs1847551520, rs1847552816, rs34466953, rs1847553344, rs34477959, rs1847553498, rs1847553585, rs1847553982, rs34831847, rs1847554171, rs35371965, rs1847555115, rs63750504, rs281864906, rs281864520, rs1847557333, rs1847557422, rs1847557540, rs34165323, rs1847558511, rs267607293, rs33969400, rs1847559573, rs1847560327, rs1847560717, rs35171933, rs34960334, rs35165357, rs1847561467, rs1847561978, rs1847562189, rs1847562491, rs1847563072, rs35133315, rs1554917970, rs33979901, rs36029927, rs63749957, rs1847565768, rs35857380, rs63749977, rs1135071, rs1847579861, rs267607295, rs35619688, rs281864899, rs1847582194, rs281864898, rs1847582308, rs33959855, rs1847584946, rs1847585652, rs1847585864, rs1847585812, rs1554918214, rs1847586938, rs1847587051, rs34548294, rs1847587286, rs1847587350, rs1847587392, rs1847587799, rs1847587930, rs34948328, rs281864519, rs1847588699, rs1847588915, rs1847589398, rs63750400, rs281864525, rs1847591425, rs1847592245, rs1847592435, rs63750692, rs1847534434, rs1847537515, rs35099082, rs63750774, rs1847554565, rs35348864	RCV001375567 RCV004699591 RCV002250997 RCV000169544 RCV003236443 RCV000576347 RCV001374642 RCV000029994 RCV000496072 RCV001831570 RCV000016432 RCV000169609 RCV001826464 RCV000988480 RCV000020338 RCV000029993 RCV000169614 RCV000589517 RCV000020337 RCV000379715 RCV000576738 RCV000984185 RCV000169502 RCV000665678 RCV001078254 RCV001078304 RCV000029972 RCV000173145 RCV000169145 RCV000020328 RCV000576555 RCV000576855 RCV000169256 RCV000586913 RCV001078331 RCV000586096 RCV001078383 RCV001078349 RCV001078257 RCV001078307 RCV000169441 RCV001078312 RCV000664667 RCV000020340 RCV000169505 RCV000020332 RCV001078335 RCV000030009 RCV001078435 RCV000587419 RCV000020341 RCV000984182 RCV000030004 RCV000415353 RCV000984183 RCV000020343 RCV000029978 RCV000020334 RCV000030002 RCV000020324 RCV000169081 RCV000445639 RCV000445653 RCV000029948 RCV000445643 RCV000029962 RCV000020326 RCV000589656 RCV000029960 RCV000445642 RCV000674175 RCV000016744 RCV000445654 RCV001078368 RCV001078299 RCV001078428 RCV001078268 RCV001826469 RCV000029954 RCV001078289 RCV001078376 RCV001078371 RCV000016817 RCV001078313 RCV000988481 RCV001078437 RCV000020335 RCV000020336 RCV000445641 RCV000445652 RCV000445640 RCV000445645 RCV000589491 RCV001078426 RCV001078409 RCV001078336 RCV001078337 RCV001078261 RCV001078348 RCV000029949 RCV000445644 RCV000445650 RCV000029957 RCV000029966 RCV001078264 RCV000590298 RCV000169623 RCV000029974 RCV000029975 RCV000029976 RCV000029979 RCV000029980 RCV000445649 RCV000030003 RCV000030006 RCV000030011 RCV000589075 RCV000590721 RCV000674991 RCV001078413 RCV000665219 RCV001078269 RCV001078284 RCV000588177 RCV000586222 RCV000588257 RCV000668023 RCV000666440 RCV000665080 RCV000721920 RCV000722073 RCV000722147 RCV001830660 RCV001078322 RCV001170018 RCV001078334 RCV000780307 RCV004561797 RCV001825527 RCV000781446 RCV000780332 RCV001078347 RCV001078354 RCV001078300 RCV001078298 RCV001078302 RCV001078301 RCV001078380 RCV001078379 RCV001078375 RCV001078373 RCV001078372 RCV001078333 RCV001078332 RCV001078330 RCV001078329 RCV001078326 RCV001078327 RCV001078421 RCV001078369 RCV001078370 RCV001078367 RCV001078364 RCV001078365 RCV001078363 RCV001078320 RCV001078360 RCV001078362 RCV001078319 RCV001078361 RCV001078358 RCV001078318 RCV001078317 RCV001078315 RCV001078314 RCV001078311 RCV001078308 RCV001078310 RCV001078309 RCV001078258 RCV001078256 RCV001078252 RCV001078251 RCV001078416 RCV001078250 RCV001078249 RCV001078418 RCV001078419 RCV001078417 RCV001078415 RCV001078414 RCV001078412 RCV001078411 RCV001078410 RCV001078408 RCV001078406 RCV001078407 RCV001078357 RCV001078355 RCV001078356 RCV001078353 RCV001078352 RCV001078350 RCV001078306 RCV001078305 RCV001078303 RCV001078386 RCV001078384 RCV001078279 RCV001078278 RCV001078276 RCV001078275 RCV001078436 RCV001078434 RCV001078433 RCV001078432 RCV001078291 RCV001078431 RCV001078429 RCV001078430 RCV001078263 RCV001078381 RCV001078382 RCV001078328 RCV001078262 RCV001078292 RCV001078422 RCV001078420 RCV001078293 RCV001078366 RCV001078359 RCV001078294 RCV001078316 RCV001078259 RCV001078253 RCV001078274 RCV001078351 RCV001078277 RCV001078378 RCV001078377 RCV001078260 RCV001078295 RCV001078338 RCV001078339 RCV001078340 RCV001078341 RCV001078342 RCV001078346 RCV001078394 RCV001078267 RCV001078324 RCV001078270 RCV001078427 RCV001078425 RCV001078423 RCV001078255 RCV001078385 RCV001078281
Beta thalassemia intermedia	Likely pathogenic; Pathogenic	rs35724775, rs33913413, rs34883338, rs33941377, rs33981098, rs33925391, rs36015961, rs34999973, rs34809925, rs34527846	RCV005406746 RCV000029987 RCV000589915 RCV000029951 RCV001255596 RCV001260263 RCV000016775 RCV000202364 RCV002265766 RCV001797592 RCV003317048 RCV002222330
Beta zero thalassemia	Pathogenic; Likely pathogenic	rs33986703, rs11549407, rs63750783, rs33974936, rs33922842, rs33995148, rs33982568, rs35497102, rs35662066, rs80356820, rs80356821, rs63749819, rs33969853, rs281864901, rs34889882, rs34856846, rs267607297, rs41443947, rs35383398, rs63750099, rs34533941, rs36107977, rs63751201, rs63750532, rs35532010, rs1554917888, rs33941849, rs33971440, rs33945777, rs1554918032, rs193922563, rs63751076, rs33943001, rs34451549, rs33913712, rs63750475, rs33952266, rs33930702, rs63751218, rs63750513, rs35477349, rs33914668, rs35225141, rs35699606, rs33956879, rs35456885, rs33913413	RCV000016655 RCV000016656 RCV000016657 RCV000016659 RCV000016660 RCV000016661 RCV000016662 RCV000016669 RCV000016670 RCV000016671 RCV000016673 RCV000016674 RCV000016675 RCV000016676 RCV000016678 RCV000016679 RCV000016680 RCV000016681 RCV000016683 RCV000016684 RCV000016685 RCV000016686 RCV000016687 RCV000016688 RCV000016689 RCV000016690 RCV000016691 RCV000016694 RCV000016695 RCV000016696 RCV000016699 RCV000016700 RCV000016703 RCV000016704 RCV000016716 RCV000016766 RCV000016770 RCV000016774 RCV000016783 RCV000016826 RCV000016828 RCV000016829 RCV000016702 RCV000016701 RCV000016668 RCV000016769 RCV000016672 RCV000016692 RCV003991531 RCV000016739 RCV000736022 RCV000016713 RCV000016767 RCV000016697
Beta-Knossos-thalassemia	Pathogenic	rs35424040	RCV000016441
Beta-Malay-thalassemia	Pathogenic	rs33972047	RCV000016481
Beta-plus-thalassemia	Pathogenic; Likely pathogenic	rs33950507, rs35424040, rs33972047, rs35256489, rs34502690, rs33931779, rs33915217, rs35724775, rs33913413, rs35004220, rs34690599, rs33951465, rs33944208, rs63751208, rs34883338, rs33941377, rs33994806, rs33981098, rs33980857, rs34598529, rs33931746, rs33985472, rs281864532, rs2494291485, rs33941844, rs63751128, rs35949130, rs34999973, rs33978907, rs34305195, rs35328027, rs34527846, rs281865475, rs1847587286	RCV000016330 RCV000016440 RCV000016480 RCV000016599 RCV000016665 RCV000016666 RCV000016705 RCV000016706 RCV000016707 RCV000016708 RCV000016709 RCV000016712 RCV000016715 RCV000016717 RCV000016718 RCV000016719 RCV000016720 RCV000016722 RCV000016723 RCV000016724 RCV000016725 RCV000016727 RCV000016728 RCV000016729 RCV000016731 RCV000016732 RCV000016733 RCV000016747 RCV000016748 RCV000016768 RCV000016778 RCV000016853 RCV000016883 RCV000016721 RCV001838527 RCV000016714 RCV000016730 RCV000016710 RCV002280785 RCV002280787 RCV000016726
Beta-plus-thalassemia, dominant	Pathogenic	rs33910569	RCV000022611
Beta-Showa-Yakushiji thalassemia	Pathogenic	rs35256489	RCV000016600
Beta-thalassemia HBB/LCRB	Likely pathogenic; Pathogenic	rs2133588176, rs34083951, rs33930165, rs33946267, rs33950507, rs33960103, rs35424040, rs33940204, rs35256489, rs33954264, rs33986703, rs11549407, rs63750783, rs33922842, rs35497102, rs35662066, rs80356820, rs80356821, rs63749819, rs33969853, rs34889882, rs33941849, rs33971440, rs33945777, rs193922563, rs33915217, rs35724775, rs33913413, rs35004220, rs34690599, rs63751208, rs33994806, rs34598529, rs33931746, rs33985472, rs33925391, rs63751128, rs34999973, rs35699671, rs33944208, rs613985, rs33943001, rs63750513, rs33941377, rs34305195, rs34282684, rs193922555, rs35699606, rs33978907, rs63749960, rs33956879, rs33952266, rs1554918165, rs1554917947, rs35456885, rs35684407, rs35133315	RCV002465869 RCV003447721 RCV002288494 RCV005229799 RCV002288495 RCV003338382 RCV005623063 RCV003137530 RCV004689418 RCV005434604 RCV002288498 RCV002288499 RCV003985073 RCV005430462 RCV004795419 RCV002288500 RCV003227603 RCV004821260 RCV002465488 RCV004566746 RCV004795420 RCV004566747 RCV005430107 RCV002288501 RCV004689419 RCV002288502 RCV002465489 RCV002288503 RCV005430463 RCV005867761 RCV004566748 RCV005430464 RCV002288504 RCV002288505 RCV004566749 RCV004689420 RCV005867762 RCV005430108 RCV004795422 RCV005430109 RCV005430465 RCV004566750 RCV002288506 RCV004786267 RCV005430536 RCV005624647 RCV005624648 RCV004689769 RCV004696927 RCV005430466 RCV005430467 RCV005430469 RCV002288523 RCV003221786 RCV002465492 RCV004566754 RCV005430110 RCV004689430 RCV005430471 RCV005430111 RCV005430580 RCV005430438 RCV005430687 RCV004568488 RCV004689867 RCV004689989
Beta-thalassemia major	Pathogenic; Likely pathogenic	rs33960103, rs33915217, rs35004220, rs34451549, rs33914668, rs33943001, rs1847513733	RCV001794452 RCV001794453 RCV000030008 RCV000029984 RCV001290616 RCV001375484 RCV001261502
Beta-thalassemia, lermontov type	Pathogenic	rs33941849	RCV000016693
Dominant beta-thalassemia	Pathogenic; Likely pathogenic	rs2494292030, rs33971634, rs33930165, rs33950507, rs34945623, rs33946267, rs80356820, rs80356821, rs34889882, rs34533941, rs33971440, rs33945777, rs33915217, rs34690599, rs36015961, rs33930702, rs35485099, rs281865477, rs193922553, rs35133315, rs35348864	RCV001549283 RCV003226537 RCV005357128 RCV005357129 RCV005417431 RCV000016658 RCV001723571 RCV006436387 RCV005000984 RCV002513069 RCV004819209 RCV001723572 RCV004814907 RCV002272021 RCV001731305 RCV002222353 RCV005417433 RCV001731306 RCV000029967 RCV001809980 RCV001732037
Erythrocytosis	Likely pathogenic	rs1141387	RCV000016552
Erythrocytosis, familial, 6	Pathogenic; Likely pathogenic	rs33937393, rs35020585, rs33959340, rs33949869, rs33965000, rs33972593, rs33966487, rs33971048, rs33954264, rs33917628, rs35067717, rs33987903, rs33961444, rs33954595, rs36020563, rs34515413, rs35291591, rs35890959, rs33929459, rs1141387, rs35209591, rs33991993, rs35117167, rs34980264, rs33969677, rs33918338, rs35351128, rs33951978, rs33971440, rs33945777, rs35724775, rs35004220, rs34690599	RCV000641405 RCV000641406 RCV000641409 RCV000641411 RCV000641413 RCV000641416 RCV000641420 RCV000641428 RCV000641431 RCV000641434 RCV000641462 RCV000641463 RCV000641470 RCV000641476 RCV000641495 RCV000641506 RCV000641527 RCV000641529 RCV000641556 RCV000641570 RCV000641578 RCV000641589 RCV000641582 RCV000641585 RCV000641593 RCV000641598 RCV000641604 RCV000641606 RCV000641613 RCV000641619 RCV000641622 RCV000641624 RCV000641629 RCV000641630 RCV005357131 RCV005357132 RCV005357133 RCV005357134 RCV005357135 RCV001839458
Fetal hemoglobin quantitative trait locus 1	Likely pathogenic; Pathogenic	rs80356821, rs33971440, rs35004220	RCV001262999 RCV001329338 RCV001262998
Hb D-Los Angeles	Likely pathogenic; Pathogenic	rs33946267	RCV000016317
Hb SS disease	Likely pathogenic; Pathogenic	rs33930165, rs33946267, rs33950507, rs33960103, rs35424040, rs35256489, rs33986703, rs11549407, rs63750783, rs33922842, rs35497102, rs80356821, rs63749819, rs34889882, rs63750532, rs35532010, rs33941849, rs33971440, rs33945777, rs33915217, rs35724775, rs35004220, rs34690599, rs34451549, rs33951465, rs33931746, rs33914668, rs33941377, rs35699606, rs33978907	RCV000202507 RCV000202465 RCV000202534 RCV001004351 RCV001004353 RCV000202511 RCV001004561 RCV001004355 RCV001004570 RCV001004356 RCV001004560 RCV001004568 RCV001004358 RCV001004569 RCV001004359 RCV001004360 RCV001004345 RCV001004352 RCV001004361 RCV001004350 RCV001004349 RCV001004566 RCV001004348 RCV001004347 RCV001004346 RCV001004564 RCV001004565 RCV001004354 RCV001004363 RCV001004362 RCV001004562 RCV001004365 RCV001004357 RCV001004557
HBB-related disorder	Pathogenic; Likely pathogenic	rs33940204, rs33930165, rs33946267, rs33950507, rs33960103, rs11549407, rs35497102, rs35662066, rs80356821, rs34889882, rs33971440, rs33915217, rs35724775, rs33913413, rs34690599, rs34451549, rs63751208, rs34999973, rs35225141, rs35699606	RCV004724745 RCV003335041 RCV000778329 RCV004532365 RCV004732545 RCV004532366 RCV004732546 RCV004532367 RCV004532368 RCV004541006 RCV004532369 RCV004732547 RCV004532370 RCV004528115 RCV004732548 RCV004532371 RCV004532372 RCV002260510 RCV006270388 RCV000368084
Heinz body anemia	Likely pathogenic; Pathogenic	rs33930165, rs33946267, rs33950507, rs34378160, rs35849199, rs33933298, rs33916412, rs11549407, rs35724775, rs34598529	RCV001813746 RCV002247348 RCV005357129 RCV000016373 RCV000016393 RCV000016446 RCV000016612 RCV002221479 RCV002247349 RCV002247350
HEMOGLOBIN ABRAHAM LINCOLN	Pathogenic	rs33948578	RCV000016547
HEMOGLOBIN ABRUZZO	Likely pathogenic; Pathogenic	rs33918338	RCV000016243
HEMOGLOBIN ALBERTA	Pathogenic	rs33937393	RCV000016247
HEMOGLOBIN ALESHA	Pathogenic	rs36008922	RCV000016801
HEMOGLOBIN ANDREW-MINNEAPOLIS	Pathogenic	rs35020585	RCV000016249
HEMOGLOBIN ARTA	Likely pathogenic	rs33978338	RCV000016812
HEMOGLOBIN BARCELONA	Pathogenic	rs33959340	RCV000016258
HEMOGLOBIN BETHESDA	Pathogenic	rs33949869	RCV000016267
HEMOGLOBIN BORAS	Pathogenic	rs33940204	RCV000016262
HEMOGLOBIN BRESCIA	Likely pathogenic; Pathogenic	rs36015961	RCV000016776
HEMOGLOBIN BRIGHAM	Pathogenic	rs33965000	RCV000016271
HEMOGLOBIN BRISBANE	Pathogenic	rs33972593	RCV000016272
HEMOGLOBIN BRISTOL	Pathogenic	rs36008922	RCV000016276
HEMOGLOBIN BRITISH COLUMBIA	Pathogenic	rs33966487	RCV000016274
HEMOGLOBIN C	Likely pathogenic; Pathogenic	rs33930165	RCV000016284
HEMOGLOBIN CAGLIARI	Pathogenic	rs33931779	RCV000016667
HEMOGLOBIN CHEMILLY	Pathogenic	rs33971048	RCV000016297
HEMOGLOBIN CHIBA	Pathogenic	rs34378160	RCV000016372
HEMOGLOBIN CHICO	Likely pathogenic	rs35939489	RCV000016299
HEMOGLOBIN COWTOWN	Pathogenic	rs33954264	RCV000016307
HEMOGLOBIN CRETEIL	Likely pathogenic; Pathogenic	rs33917628	RCV000016310
Hemoglobin D disease	Likely pathogenic; Pathogenic	rs33946267	RCV001175348
HEMOGLOBIN DIEPPE	Pathogenic	rs33910569	RCV000016802
HEMOGLOBIN DRENTHE	Pathogenic	rs33954632	RCV000016639
HEMOGLOBIN DURHAM-N.C.	Likely pathogenic; Pathogenic	rs36015961	RCV000016777
Hemoglobin E	Pathogenic	rs33950507	RCV000016329
Hemoglobin E disease	Pathogenic	rs33950507	RCV000778330
Hemoglobin E/beta thalassemia disease	Pathogenic	rs33950507	RCV000016331
Hemoglobin E/beta- thalassemia	Pathogenic	rs33950507, rs33915217	RCV005252683 RCV005252684
HEMOGLOBIN EGYPT	Likely pathogenic; Pathogenic	rs33946267	RCV000016525
HEMOGLOBIN GENOVA	Pathogenic	rs33916412	RCV000016362
HEMOGLOBIN GREAT LAKES	Pathogenic	rs33972593	RCV000016273
HEMOGLOBIN HAMMERSMITH	Pathogenic	rs34378160	RCV000016371
HEMOGLOBIN HANA	Pathogenic	rs33922873	RCV000855777
HEMOGLOBIN HEATHROW	Pathogenic	rs35067717	RCV000016375
HEMOGLOBIN HELSINKI	Pathogenic	rs33987903	RCV000016376
HEMOGLOBIN HIROSHIMA	Pathogenic	rs33961444	RCV000016383
HEMOGLOBIN HOTEL-DIEU	Pathogenic	rs33971048	RCV000016388
HEMOGLOBIN HYOGO	Pathogenic	rs33916412	RCV000016363
HEMOGLOBIN INDIANAPOLIS	Pathogenic	rs35849199	RCV000016392
HEMOGLOBIN JOHNSTOWN	Pathogenic	rs33969677	RCV000016428
HEMOGLOBIN KEMPSEY	Pathogenic	rs33954595	RCV000016436
HEMOGLOBIN KNOSSOS	Pathogenic	rs35424040	RCV000016439
HEMOGLOBIN KOBE	Pathogenic	rs33948578	RCV000016548
HEMOGLOBIN KOREA	Pathogenic	rs35699671	RCV000016797
HEMOGLOBIN LEIDEN	Likely pathogenic	rs63750928	RCV000016452
HEMOGLOBIN LUFKIN	Likely pathogenic	rs35685286	RCV000016460
HEMOGLOBIN M (AKITA)	Pathogenic	rs33924775	RCV000016465
HEMOGLOBIN M (HYDE PARK)	Pathogenic	rs33924775	RCV000016464
HEMOGLOBIN M (MILWAUKEE 1)	Pathogenic	rs33918343	RCV000016462
HEMOGLOBIN M (MILWAUKEE 2)	Pathogenic	rs33924775	RCV000016463
HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE	Pathogenic	rs33922873	RCV000641524
HEMOGLOBIN M (SASKATOON)	Pathogenic	rs33922873	RCV000016466
HEMOGLOBIN MADRID	Pathogenic	rs34945623	RCV000016478
HEMOGLOBIN MALAY	Pathogenic	rs33972047	RCV000016479
HEMOGLOBIN MALMO	Pathogenic	rs34515413	RCV000016482
HEMOGLOBIN MANHATTAN	Pathogenic	rs63751201	RCV002284171
HEMOGLOBIN MCKEES ROCKS	Pathogenic	rs35291591	RCV000016489
HEMOGLOBIN MIZUHO	Likely pathogenic	rs33972593	RCV000016497
HEMOGLOBIN N (TIMONE)	Pathogenic	rs33926764	RCV000016511
HEMOGLOBIN O (ARAB)	Likely pathogenic; Pathogenic	rs33946267	RCV000016524
HEMOGLOBIN OLYMPIA	Likely pathogenic; Pathogenic	rs35890959	RCV000016533
HEMOGLOBIN PALMERSTON NORTH	Pathogenic	rs33929459	RCV000016544
HEMOGLOBIN PERTH	Pathogenic	rs33948578	RCV000016546
HEMOGLOBIN PIERRE-BENITE	Pathogenic	rs35002698	RCV000016551
HEMOGLOBIN POTOMAC	Pathogenic	rs35209591	RCV000016557
HEMOGLOBIN PROVIDENCE	Pathogenic	rs33991993	RCV000016559
HEMOGLOBIN PUTTELANGE	Pathogenic	rs33927093	RCV000016811
HEMOGLOBIN RADCLIFFE	Pathogenic	rs33971048	RCV000016555
HEMOGLOBIN RAHERE	Pathogenic	rs33987903	RCV000016561
HEMOGLOBIN RAINIER	Pathogenic	rs35117167	RCV000016562
HEMOGLOBIN ROCKFORD	Likely pathogenic; Pathogenic	rs33961459	RCV000016880
HEMOGLOBIN SABINE	Pathogenic	rs33917785	RCV000016581
HEMOGLOBIN SAINT ETIENNE	Pathogenic	rs34083951	RCV000016395
HEMOGLOBIN SAINT JACQUES	Pathogenic	rs34980264	RCV000016582
HEMOGLOBIN SAN DIEGO	Pathogenic	rs33969677	RCV000016585
HEMOGLOBIN SANTA ANA	Likely pathogenic; Pathogenic	rs33940204	RCV000016586
HEMOGLOBIN SHANGHAI	Likely pathogenic	rs33950778	RCV000016592
HEMOGLOBIN SHOWA-YAKUSHIJI	Pathogenic	rs35256489	RCV000016598
HEMOGLOBIN ST. LOUIS	Pathogenic	rs33916412	RCV000016611
HEMOGLOBIN SYRACUSE	Pathogenic	rs33918338	RCV000016616
HEMOGLOBIN TERRE HAUTE	Pathogenic	rs33941844	RCV000016746
HEMOGLOBIN VANDERBILT	Pathogenic	rs35351128	RCV000016635
HEMOGLOBIN VOLGA	Pathogenic	rs33954632	RCV000016638
HEMOGLOBIN WOOD	Likely pathogenic	rs33951978	RCV000016643
HEMOGLOBIN YAKIMA	Pathogenic	rs33954595	RCV000016644
HEMOGLOBIN YORK	Pathogenic	rs33954264	RCV000016648
HEMOGLOBIN YPSILANTI	Pathogenic	rs33954595	RCV000016650
Hemoglobinopathy	Likely pathogenic; Pathogenic	rs2133588679, rs2494297181, rs2494296091, rs2494292407, rs35693898, rs34160180, rs33916412, rs35424040, rs33933298, rs33966761, rs35890959, rs35002698, rs33969677, rs33985544, rs33974936, rs33922842, rs35662066, rs34856846, rs35383398, rs63750532, rs35532010, rs63751076, rs33944208, rs33925391, rs63751128, rs33924775, rs35485099, rs36008922, rs33927093, rs2494297176, rs34704828, rs63750513, rs34563000, rs33950507, rs63750128, rs1564874901, rs33949869, rs35395625, rs35133315, rs33979901, rs1847589398, rs63750320	RCV001420858 RCV003317770 RCV003324392 RCV003489626 RCV000016279 RCV000016337 RCV001731302 RCV000780311 RCV000016443 RCV000016521 RCV004799743 RCV003387724 RCV001553627 RCV003987323 RCV000781456 RCV000780310 RCV000590756 RCV000781438 RCV000780312 RCV000781455 RCV000780308 RCV003317038 RCV000781453 RCV000016741 RCV001193152 RCV000016756 RCV000016791 RCV005055517 RCV003234910 RCV003994949 RCV000781439 RCV000781451 RCV000780315 RCV000780324 RCV000781460 RCV001193151 RCV001251374 RCV000781441 RCV000780313 RCV001420867 RCV001293624 RCV001420874 RCV001193150
Hemolytic anemia	Pathogenic	rs33924146	RCV000016458 RCV000016590
Hepatocellular carcinoma	Pathogenic	rs63750774	RCV005866799
Hereditary persistence of fetal hemoglobin	Likely pathogenic; Pathogenic	rs33930165, rs33950507, rs80356821, rs33915217	RCV003137529 RCV005229800 RCV005229805 RCV003445071
Inherited hemoglobinopathy	Likely pathogenic; Pathogenic	rs33930165	RCV004017254
Malaria, resistance to	Likely pathogenic; Pathogenic	rs33930165, rs33950507	RCV000016285 RCV000016332
Malaria, susceptibility to	Pathogenic; Likely pathogenic	rs33950507, rs35424040, rs11549407, rs35497102, rs80356820, rs33945777, rs193922563, rs33915217, rs35724775, rs35004220, rs63751208, rs35699606	RCV003989105 RCV003992156 RCV003987324 RCV003989287 RCV004813042 RCV003987325 RCV003989288 RCV003987326 RCV003988822 RCV003989289 RCV003989290 RCV003989106
METHEMOGLOBINEMIA, BETA TYPE	Pathogenic	rs33918343, rs33924775, rs33922873, rs33941844	RCV000641512 RCV000641516 RCV005429213 RCV000016630 RCV005208152
Nonpapillary renal cell carcinoma	Pathogenic	rs33956879	RCV005888729 RCV005897320
Sickle cell-hemoglobin C disease	Likely pathogenic; Pathogenic	rs33930165	RCV003150807
Sickle cell-Hemoglobin O Arab disease	Likely pathogenic; Pathogenic	rs33946267	RCV000587075
Thymoma	Pathogenic	rs33914668	RCV005887591

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Congenital anemia	Uncertain significance	rs33976006	RCV005624692
Delta-beta-thalassemia	Uncertain significance	rs1437278962	RCV001420459
HEMOGLOBIN 'T LANGE LAND	other	rs33984863	RCV000016857
HEMOGLOBIN AALBORG	other	rs33916541	RCV000016242
HEMOGLOBIN AGENOGI	Uncertain significance	rs33913712	RCV000016244
HEMOGLOBIN ALABAMA	Uncertain significance	rs11549407	RCV002280786
HEMOGLOBIN ALAMO	other; Uncertain significance	rs34866629	RCV000016246
HEMOGLOBIN ALTDORF	other	rs35492035	RCV000016248
HEMOGLOBIN ANKARA	other	rs33947457	RCV000016250
HEMOGLOBIN ANTALYA	other	rs2133589604	RCV001789802
HEMOGLOBIN ATHENS-GEORGIA	Conflicting classifications of pathogenicity	rs34831026	RCV000016252
HEMOGLOBIN ATLANTA	other	rs33950542	RCV000016254
HEMOGLOBIN ATLANTA-COVENTRY	other	rs33950542	RCV000016255
HEMOGLOBIN AUBAGNE	Uncertain significance	rs33922018	RCV000016866
HEMOGLOBIN AURORA	other	rs33910475	RCV000016813
HEMOGLOBIN AUSTIN	other	rs33918778	RCV000016256
HEMOGLOBIN AVICENNA	other	rs33980484	RCV000016257
HEMOGLOBIN BAB-SAADOUN	other	rs33952850	RCV000016772
HEMOGLOBIN BADEN	other	rs35802118	RCV000016781
HEMOGLOBIN BARBIZON	other	rs33996892	RCV000016843
HEMOGLOBIN BAYLOR	other	rs33936967	RCV000016259
HEMOGLOBIN BECKMAN	other	rs35669628	RCV000016796
HEMOGLOBIN BEIRUT	Conflicting classifications of pathogenicity	rs33925391	RCV000016260
HEMOGLOBIN BELFAST	other	rs33946157	RCV000016261
HEMOGLOBIN BEOGRAD	Conflicting classifications of pathogenicity	rs33987957	RCV000016264
HEMOGLOBIN BETH ISRAEL	other	rs33948057	RCV000016266
HEMOGLOBIN BICETRE	other	rs33985544	RCV000016268
HEMOGLOBIN BIRMINGHAM	other	rs34383403	RCV000016736
HEMOGLOBIN BOLOGNA	other	rs34974709	RCV000016269
HEMOGLOBIN BOLOGNA-ST. ORSOLA	other	rs33961444	RCV000016844
HEMOGLOBIN BOUGARDIREY-MALI	other	rs33947020	RCV000016263
HEMOGLOBIN BREM-SUR-MER	other	rs33918131	RCV000016886
HEMOGLOBIN BREST	other	rs33971634	RCV000016270
HEMOGLOBIN BRIE COMTE ROBERT	other	rs33948615	RCV000016842
HEMOGLOBIN BROCKTON	other	rs33919821	RCV000016275
HEMOGLOBIN BUNBURY	Uncertain significance	rs33959340	RCV000016281
HEMOGLOBIN BURKE	other	rs35017910	RCV000016282
HEMOGLOBIN BUSHEY	other	rs33971848	RCV000016847
HEMOGLOBIN BUSHWICK	Uncertain significance	rs33976006	RCV000016283
HEMOGLOBIN BUZEN	other	rs33919821	RCV000016873
HEMOGLOBIN CALAIS	other	rs35286210	RCV000016740
HEMOGLOBIN CAMDEN	Conflicting classifications of pathogenicity	rs33910209	RCV002280781
HEMOGLOBIN CAMPERDOWN	other	rs33914944	RCV000016293
HEMOGLOBIN CANTERBURY	other	rs33932908	RCV000016862
HEMOGLOBIN CARDARELLI	other	rs33952147	RCV000016878
HEMOGLOBIN CARIBBEAN	Uncertain significance	rs33917785	RCV000016294
HEMOGLOBIN CASPER	other	rs33941844	RCV000016606
HEMOGLOBIN CASTILLA	other	rs33948578	RCV000016295
HEMOGLOBIN CHANDIGARH	other	rs34579351	RCV000016296
HEMOGLOBIN CHESTERFIELD	other	rs33916412	RCV000016751
HEMOGLOBIN CHEVERLY	Conflicting classifications of pathogenicity	rs33978338	RCV000016298
HEMOGLOBIN CHILE	other	rs33958088	RCV000016835
HEMOGLOBIN CHRISTCHURCH	other	rs34362537	RCV000016300
HEMOGLOBIN CITY OF HOPE	Conflicting classifications of pathogenicity	rs33947415	RCV000016301
HEMOGLOBIN COCHIN-PORT ROYAL	other	rs33954264	RCV000016302
HEMOGLOBIN COCODY	Uncertain significance	rs33950093	RCV000016303
HEMOGLOBIN COIMBRA	other	rs34013622	RCV000016757
HEMOGLOBIN COLIMA	Uncertain significance	rs33960931	RCV000016869
HEMOGLOBIN COLLINGWOOD	other	rs33931779	RCV000016304
HEMOGLOBIN COMPLUTENSE	other	rs33971634	RCV000016367
HEMOGLOBIN CONNECTICUT	other	rs33977536	RCV000016305
HEMOGLOBIN COSTA RICA	other	rs33952543	RCV000016822
HEMOGLOBIN COVENTRY	other	rs33935780	RCV000016306
HEMOGLOBIN CRANSTON	other	rs35660883	RCV000016308
HEMOGLOBIN CRETE	Conflicting classifications of pathogenicity	rs35939430	RCV000016309
HEMOGLOBIN D (BUSHMAN)	other	rs63751285	RCV000016311
HEMOGLOBIN D (CAMPERDOWN)	Conflicting classifications of pathogenicity	rs33987957	RCV000016265
HEMOGLOBIN D (GRANADA)	Uncertain significance	rs33936254	RCV000016312
HEMOGLOBIN D (IBADAN)	Conflicting classifications of pathogenicity	rs33993568	RCV000016313
HEMOGLOBIN D (IRAN)	Conflicting classifications of pathogenicity	rs33959855	RCV000016314
HEMOGLOBIN D (NEATH)	other	rs33987957	RCV000016799
HEMOGLOBIN D (OULED RABAH)	Conflicting classifications of pathogenicity	rs63750840	RCV000016321
HEMOGLOBIN DEACONESS	Conflicting classifications of pathogenicity	rs33910209	RCV000016595
HEMOGLOBIN DEBROUSSE	other	rs36081208	RCV000016816
HEMOGLOBIN DEER LODGE	Conflicting classifications of pathogenicity	rs33983205	RCV000016324
HEMOGLOBIN DENVER	Uncertain significance	rs33926796	RCV000016795
HEMOGLOBIN DETROIT	Uncertain significance	rs36038739	RCV000016325
HEMOGLOBIN DJELFA	other	rs33985510	RCV000016326
HEMOGLOBIN DOHA	other	rs33949930	RCV000016327
HEMOGLOBIN DUARTE	other	rs34933455	RCV000016328
HEMOGLOBIN E (SASKATOON)	Conflicting classifications of pathogenicity	rs33959855	RCV000016333
HEMOGLOBIN EDMONTON	other	rs2494295947	RCV000016334
HEMOGLOBIN ERNZ	Uncertain significance	rs33935383	RCV000016851
HEMOGLOBIN EXTREMADURA	other	rs34095019	RCV000016335
HEMOGLOBIN FUKUOKA	other	rs35906307	RCV000016339
HEMOGLOBIN FUKUYAMA	Uncertain significance	rs33991294	RCV000016340
HEMOGLOBIN G (ACCRA)	Uncertain significance	rs33990858	RCV000016341
HEMOGLOBIN G (COPENHAGEN)	Conflicting classifications of pathogenicity	rs33932070	RCV000016342
HEMOGLOBIN G (COUSHATTA)	Conflicting classifications of pathogenicity	rs33936254	RCV000016343
HEMOGLOBIN G (FERRARA)	Uncertain significance	rs35278874	RCV000016347
HEMOGLOBIN G (GALVESTON)	Conflicting classifications of pathogenicity	rs35262412	RCV000016348
HEMOGLOBIN G (HSI-TSOU)	Uncertain significance	rs34173382	RCV000016351
HEMOGLOBIN G (HSIN-CHU)	Conflicting classifications of pathogenicity	rs33936254	RCV000016345
HEMOGLOBIN G (MAKASSAR)	Likely benign	rs334	RCV000016352
HEMOGLOBIN G (PORT ARTHUR)	Conflicting classifications of pathogenicity	rs35262412	RCV000016349
HEMOGLOBIN G (SAN JOSE)	Likely benign	rs34387455	RCV000016353
HEMOGLOBIN G (SASKATOON)	Conflicting classifications of pathogenicity	rs33936254	RCV000016344
HEMOGLOBIN G (SZUHU)	other	rs35890380	RCV000016354
HEMOGLOBIN G (TAEGU)	Conflicting classifications of pathogenicity	rs33936254	RCV000016346
HEMOGLOBIN G (TAIPEI)	Conflicting classifications of pathogenicity	rs33936254	RCV000016356
HEMOGLOBIN G (TAIWAN-AMI)	other	rs34404985	RCV000016357
HEMOGLOBIN G (TEXAS)	Conflicting classifications of pathogenicity	rs35262412	RCV000016350
HEMOGLOBIN GAINESVILLE-GA	other	rs34743882	RCV000016358
HEMOGLOBIN GALICIA	other	rs63750837	RCV000016737
HEMOGLOBIN GAVELLO	other	rs33980484	RCV000016359
HEMOGLOBIN GEELONG	other	rs33910475	RCV000016360
HEMOGLOBIN GELDROP ST. ANNA	other	rs33959340	RCV000016887
HEMOGLOBIN GIFU	other	rs35890380	RCV000016355
HEMOGLOBIN GRANGE-BLANCHE	Uncertain significance	rs33954632	RCV000016364
HEMOGLOBIN GRAZ	other	rs33983205	RCV000016782
HEMOGLOBIN GUN HILL	other; Uncertain significance	rs34210688	RCV000016365
HEMOGLOBIN HACETTEPE	other	rs33971634	RCV000016366
HEMOGLOBIN HAFNIA	other	rs35209776	RCV000016368
HEMOGLOBIN HAKKARI	other	rs33920173	RCV000016810
HEMOGLOBIN HAMADAN	Likely benign	rs33935983	RCV000016369
HEMOGLOBIN HAMILTON	Uncertain significance	rs33974228	RCV000016370
HEMOGLOBIN HARROW	other	rs33928092	RCV000016841
HEMOGLOBIN HAZEBROUCK	other	rs34571024	RCV000016374
HEMOGLOBIN HENRI MONDOR	other	rs33915112	RCV000016377
HEMOGLOBIN HIGASHITOCHIGI	other	rs63749918	RCV000016803
HEMOGLOBIN HIJIYAMA	Uncertain significance	rs33924134	RCV000016378
HEMOGLOBIN HIKARI	Conflicting classifications of pathogenicity	rs34446260	RCV000016379
HEMOGLOBIN HIMEJI	Uncertain significance	rs33927093	RCV000016380
HEMOGLOBIN HINSDALE	Likely benign	rs34240441	RCV000016381
HEMOGLOBIN HINWIL	Uncertain significance	rs34703513	RCV000016815
HEMOGLOBIN HIROSE	other	rs33991059	RCV000016382
HEMOGLOBIN HOFU	Conflicting classifications of pathogenicity	rs33925391	RCV000016384
HEMOGLOBIN HOKUSETSU	other	rs33919924	RCV000016825
HEMOGLOBIN HOPKINS 1	Conflicting classifications of pathogenicity	rs33914359	RCV000016507
HEMOGLOBIN HOWICK	Uncertain significance	rs33994623	RCV000016794
HEMOGLOBIN HT	other	rs63749918	RCV000016804
HEMOGLOBIN I (HIGH WYCOMBE)	other	rs33969400	RCV000016389
HEMOGLOBIN ILMENAU	other	rs33926796	RCV000016865
HEMOGLOBIN IOWA	other	rs33947020	RCV000016743
HEMOGLOBIN IRAQ-HALABJA	other	rs33947457	RCV000016838
HEMOGLOBIN J (ALTGELD GARDENS)	other	rs33924775	RCV000016396
HEMOGLOBIN J (AMIENS)	other	rs36006214	RCV000016397
HEMOGLOBIN J (ANTAKYA)	other	rs33932548	RCV000016398
HEMOGLOBIN J (AUCKLAND)	other	rs35474880	RCV000016399
HEMOGLOBIN J (BALTIMORE)	Conflicting classifications of pathogenicity	rs33962676	RCV000016400
HEMOGLOBIN J (BARI)	other	rs33922018	RCV000016412
HEMOGLOBIN J (CAIRO)	other	rs35353749	RCV000016409
HEMOGLOBIN J (CALABRIA)	other	rs33922018	RCV000016410
HEMOGLOBIN J (CHICAGO)	other	rs33985847	RCV000016413
HEMOGLOBIN J (CORDOBA)	other	rs35204496	RCV000016414
HEMOGLOBIN J (COSENZA)	other	rs33922018	RCV000016411
HEMOGLOBIN J (DALOA)	other	rs33988732	RCV000016415
HEMOGLOBIN J (EUROPA)	other	rs34151786	RCV000016819
HEMOGLOBIN J (GUANTANAMO)	Uncertain significance	rs33957286	RCV000016416
HEMOGLOBIN J (IRAN)	Conflicting classifications of pathogenicity	rs33991294	RCV000016417
HEMOGLOBIN J (LENS)	other	rs35203747	RCV000016420
HEMOGLOBIN J (LOME)	Uncertain significance	rs34621955	RCV000016421
HEMOGLOBIN J (LUHE)	other	rs33926764	RCV000016422
HEMOGLOBIN J (SICILIA)	other	rs35747961	RCV000016425
HEMOGLOBIN J (TAICHUNG)	other	rs111645889	RCV000016426
HEMOGLOBIN JACKSONVILLE	other	rs34037627	RCV000016750
HEMOGLOBIN JENKINS	Conflicting classifications of pathogenicity	rs33914359	RCV000016506
HEMOGLOBIN JIANGHUA	other	rs34303736	RCV000016427
HEMOGLOBIN JINAN	other	rs33910475	RCV000016361
HEMOGLOBIN K (CAMEROON)	other	rs111645889	RCV000016429
HEMOGLOBIN K (IBADAN)	Likely benign	rs35303218	RCV000016430
HEMOGLOBIN K (WOOLWICH)	Likely benign	rs33953406	RCV000016431
HEMOGLOBIN KARLSKOGA	other	rs33950093	RCV000016784
HEMOGLOBIN KENITRA	Uncertain significance	rs33947415	RCV000016437
HEMOGLOBIN KENWOOD	Conflicting classifications of pathogenicity	rs33914359	RCV000016508
HEMOGLOBIN KHARTOUM	Conflicting classifications of pathogenicity	rs33983276	RCV000016438
HEMOGLOBIN KODAIRA	other	rs33985739	RCV000016760
HEMOGLOBIN KODAIRA II	other	rs33985739	RCV000016868
HEMOGLOBIN KOFU	other	rs35914488	RCV000016442
HEMOGLOBIN KORLE-BU	Conflicting classifications of pathogenicity	rs33945705	RCV000016449
HEMOGLOBIN LA CORUNA	other	rs34703513	RCV000016889
HEMOGLOBIN LA DESIRADE	Conflicting classifications of pathogenicity	rs111645889	RCV000016450
HEMOGLOBIN LA ROCHE-SUR-YON	other	rs33936967	RCV000016837
HEMOGLOBIN LAS PALMAS	Uncertain significance	rs33960931	RCV000016451
HEMOGLOBIN LESLIE	Conflicting classifications of pathogenicity	rs33910209	RCV000016594
HEMOGLOBIN LIMASSOL	other	rs35198910	RCV000016860
HEMOGLOBIN LINKOPING	other	rs33948615	RCV000016455
HEMOGLOBIN LUCKNOW	other	rs33932981	RCV000016839
HEMOGLOBIN LYON	other	rs63749958	RCV000016461
HEMOGLOBIN MACHIDA	Uncertain significance	rs33930165	RCV000016448
HEMOGLOBIN MANUKAU	Uncertain significance	rs33918343	RCV000016792
HEMOGLOBIN MAPUTO	Uncertain significance	rs33932070	RCV000016483
HEMOGLOBIN MARINEO	Uncertain significance	rs33946401	RCV000016888
HEMOGLOBIN MATERA	other	rs35094013	RCV000016487
HEMOGLOBIN MEILAHTI	other	rs33948615	RCV000016456
HEMOGLOBIN MEQUON	other	rs33926796	RCV000016488
HEMOGLOBIN MINNEAPOLIS-LAOS	other	rs33928092	RCV000016490
HEMOGLOBIN MITO	other	rs33964352	RCV000016493
HEMOGLOBIN MIYASHIRO	other	rs33945546	RCV000016496
HEMOGLOBIN MOBILE	other	rs33967755	RCV000016499
HEMOGLOBIN MOLFETTA	other	rs35658323	RCV000016864
HEMOGLOBIN MONT SAINT-AIGNAN	other	rs34139813	RCV000016856
HEMOGLOBIN MONTREAL	other	rs2494295587	RCV000016761
HEMOGLOBIN MORIGUCHI	other	rs33950993	RCV000016500
HEMOGLOBIN MOSCVA	other	rs33968721	RCV000016501
HEMOGLOBIN MOTOWN	Conflicting classifications of pathogenicity	rs33910209	RCV002280782
HEMOGLOBIN MOZHAISK	other	rs33974325	RCV000016502
HEMOGLOBIN MUSCAT	other	rs33956555	RCV000016771
HEMOGLOBIN MUSKEGON	Uncertain significance	rs33930385	RCV000016785
HEMOGLOBIN N (BALTIMORE)	Conflicting classifications of pathogenicity	rs33914359	RCV000016504
HEMOGLOBIN N (JENKINS)	Conflicting classifications of pathogenicity	rs33914359	RCV000016505
HEMOGLOBIN N (SEATTLE)	Uncertain significance	rs33995148	RCV000016510
HEMOGLOBIN NAGASAKI	other	rs33986703	RCV000016512
HEMOGLOBIN NAGOYA	other	rs33951978	RCV000016513
HEMOGLOBIN NAKANO	other	rs33932981	RCV000016814
HEMOGLOBIN NEVERS	other	rs33937535	RCV000016514
HEMOGLOBIN NEW MEXICO	Uncertain significance	rs33965000	RCV000016515
HEMOGLOBIN NEWCASTLE	other	rs33974325	RCV000016518
HEMOGLOBIN NIJKERK	other	rs34359964	RCV000016834
HEMOGLOBIN NIKOSIA	other	rs33986703	RCV000016762
HEMOGLOBIN NITEROI	other	rs35637840	RCV000016519
HEMOGLOBIN NORTH CHICAGO	other	rs33948615	RCV000016520
HEMOGLOBIN NOTTINGHAM	other	rs33985510	RCV000016523
HEMOGLOBIN OCHO RIOS	Uncertain significance	rs33919924	RCV000016526
HEMOGLOBIN OHIO	Uncertain significance	rs33921821	RCV000016527
HEMOGLOBIN OKALOOSA	other	rs33952850	RCV000016528
HEMOGLOBIN OKAYAMA	Likely benign	rs713040	RCV000016529
HEMOGLOBIN OKAZAKI	other	rs33972927	RCV000016530
HEMOGLOBIN OLMSTED	Uncertain significance	rs35854892	RCV000016531
HEMOGLOBIN OLOMOUC	other	rs35819837	RCV000016532
HEMOGLOBIN P	other; Uncertain significance	rs33978082	RCV000016538
HEMOGLOBIN P (GALVESTON)	other; Uncertain significance	rs33978082	RCV000016539
HEMOGLOBIN PASADENA	other	rs33950542	RCV000016545
HEMOGLOBIN PETERBOROUGH	other	rs33957964	RCV000016549
HEMOGLOBIN PHILLY	other	rs35857380	RCV000016550
HEMOGLOBIN POCOS DE CALDAS	other	rs33995148	RCV000016870
HEMOGLOBIN PORTO ALEGRE	Conflicting classifications of pathogenicity	rs33918131	RCV000016556
HEMOGLOBIN PRESBYTERIAN	other	rs34933751	RCV000016558
HEMOGLOBIN PYRGOS	Conflicting classifications of pathogenicity	rs1803195	RCV000016560
HEMOGLOBIN QUIN-HAI	other	rs34870172	RCV000016554
HEMOGLOBIN RALEIGH	Conflicting classifications of pathogenicity	rs33949930	RCV000016563
HEMOGLOBIN RANCHO MIRAGE	other	rs33929415	RCV000016765
HEMOGLOBIN RANDWICK	other	rs33946157	RCV000016564
HEMOGLOBIN REGINA	other	rs34665886	RCV000016565
HEMOGLOBIN RENERT	other	rs35825479	RCV000016852
HEMOGLOBIN RICHMOND	other	rs34227486	RCV000016566
HEMOGLOBIN RIO CLARO	Uncertain significance	rs1141370	RCV000016833
HEMOGLOBIN RIO GRANDE	other	rs33932981	RCV000030668
HEMOGLOBIN RIVERDALE-BRONX	other	rs33972975	RCV000016567
HEMOGLOBIN ROSEAU-POINTE A PITRE	other	rs35068498	RCV000016570
HEMOGLOBIN ROTHSCHILD	other	rs33994623	RCV000016571
HEMOGLOBIN RUSH	other	rs33966487	RCV000016572
HEMOGLOBIN SAALE	Uncertain significance	rs35960772	RCV000016846
HEMOGLOBIN SAGAMI	Uncertain significance	rs34407387	RCV000016840
HEMOGLOBIN SAINT NAZAIRE	other	rs33921589	RCV000016788
HEMOGLOBIN SAITAMA	other	rs33978082	RCV000016583
HEMOGLOBIN SAKI	Uncertain significance	rs33935445	RCV000016584
HEMOGLOBIN SANTA CLARA	other	rs33950993	RCV000016874
HEMOGLOBIN SANTANDER	other	rs1135101	RCV000016872
HEMOGLOBIN SARREBOURG	other	rs33950778	RCV000016787
HEMOGLOBIN SAVANNAH	other	rs33968721	RCV000016587
HEMOGLOBIN SAVERNE	other	rs63749858	RCV000016588
HEMOGLOBIN SEATTLE	other	rs33946401	RCV000016589
HEMOGLOBIN SHELBY	Conflicting classifications of pathogenicity	rs33910209	RCV000016593
HEMOGLOBIN SHEPHERDS BUSH	other	rs33976006	RCV000016596
HEMOGLOBIN SHERWOOD FOREST	Likely benign	rs33911434	RCV000016597
HEMOGLOBIN SILVER SPRINGS	other	rs34188626	RCV000016830
HEMOGLOBIN SITIA	Uncertain significance	rs33957286	RCV000016850
HEMOGLOBIN SOGN	Uncertain significance	rs33935445	RCV000016604
HEMOGLOBIN SOUTH FLORIDA	Conflicting classifications of pathogenicity	rs33958358	RCV000016609
HEMOGLOBIN SOUTH MILWAUKEE	Uncertain significance	rs34022507	RCV000016738
HEMOGLOBIN SOUTHAMPTON	other	rs33941844	RCV000016605
HEMOGLOBIN SPARTA	other	rs33921589	RCV000016875
HEMOGLOBIN ST. ANTOINE	other	rs63750968	RCV000016610
HEMOGLOBIN ST. FRANCIS	Uncertain significance	rs33987957	RCV000016763
HEMOGLOBIN ST. MANDE	other	rs33927739	RCV000016603
HEMOGLOBIN STANMORE	other	rs35871407	RCV000016607
HEMOGLOBIN STRASBOURG	Uncertain significance	rs33945546	RCV000016608
HEMOGLOBIN SUMMER HILL	Uncertain significance	rs33961886	RCV000016613
HEMOGLOBIN SUNNYBROOK	other	rs33993004	RCV000016614
HEMOGLOBIN SYDNEY	other	rs33918343	RCV000016615
HEMOGLOBIN TA-LI	Uncertain significance	rs33930385	RCV000016618
HEMOGLOBIN TAK	Conflicting classifications of pathogenicity	rs33999427	RCV000016621
HEMOGLOBIN TAKAMATSU	other	rs33924134	RCV000016622
HEMOGLOBIN TAMPA	Likely benign	rs33990858	RCV000016623
HEMOGLOBIN TENDE	Uncertain significance	rs33983276	RCV000016836
HEMOGLOBIN TIANSHUI	other	rs35973315	RCV000016624
HEMOGLOBIN TIGRAYE	Uncertain significance	rs33990858	RCV000016786
HEMOGLOBIN TILBURG	other	rs33967755	RCV000016625
HEMOGLOBIN TIZI-OUZOU	other	rs33974277	RCV000016882
HEMOGLOBIN TOCHIGI	other	rs63751103	RCV000016626
HEMOGLOBIN TOKUCHI	Conflicting classifications of pathogenicity	rs33910209	RCV002280783
HEMOGLOBIN TOURS	other	rs63751171	RCV000016627
HEMOGLOBIN TOYOAKE	other	rs33931806	RCV000016628
HEMOGLOBIN TRENTO	other	rs63751425	RCV000016871
HEMOGLOBIN TRIPOLI	other	rs33915112	RCV000016881
HEMOGLOBIN TROLLHAETTAN	other	rs33918474	RCV000016805
HEMOGLOBIN TSUKUMI	other	rs34049764	RCV000016849
HEMOGLOBIN TSURUMAI	other	rs33940051	RCV000016818
HEMOGLOBIN TUNIS	Uncertain significance	rs35461710	RCV000016631
HEMOGLOBIN TY GARD	Uncertain significance	rs33983276	RCV000016632
HEMOGLOBIN TYNE	Uncertain significance	rs33912272	RCV000016806
HEMOGLOBIN VAASA	other	rs11549407	RCV000016633
HEMOGLOBIN VALLETTA	Benign; Likely benign	rs35553496	RCV000016749
HEMOGLOBIN VANCOUVER	other	rs33945705	RCV000016634
HEMOGLOBIN VICKSBURG	other	rs35452098	RCV000016636
HEMOGLOBIN VILA REAL	Conflicting classifications of pathogenicity	rs33993004	RCV000016845
HEMOGLOBIN VILLAVERDE	other	rs33917628	RCV000016793
HEMOGLOBIN VILLEJUIF	Uncertain significance	rs33935383	RCV000016637
HEMOGLOBIN WARWICKSHIRE	other	rs34769005	RCV000016640
HEMOGLOBIN WASHTENAW	Uncertain significance	rs33974228	RCV000016800
HEMOGLOBIN WATFORD	other	rs33949930	RCV000016854
HEMOGLOBIN WIEN	other	rs35834416	RCV000016641
HEMOGLOBIN WILLAMETTE	other	rs33969727	RCV000016629
HEMOGLOBIN WINDSOR	other	rs35140348	RCV000016642
HEMOGLOBIN YAHATA	other	rs33932908	RCV000016764
HEMOGLOBIN YAIZU	Uncertain significance	rs33990858	RCV000030906
HEMOGLOBIN YAMAGATA	other	rs33946775	RCV000016645
HEMOGLOBIN YAOUNDE	Conflicting classifications of pathogenicity	rs33966761	RCV000016855
HEMOGLOBIN YATSUSHIRO	other	rs33990253	RCV000016646
HEMOGLOBIN YOKOHAMA	other	rs33920173	RCV000016647
HEMOGLOBIN YOSHIZUKA	other	rs33958637	RCV000016649
HEMOGLOBIN YUSA	Likely benign	rs33950093	RCV000016653
HEMOGLOBIN ZENGCHENG	other	rs33917394	RCV000016745
HEMOGLOBIN ZOETERWOUDE	other	rs33945546	RCV000016885
Hypertrophic cardiomyopathy 26	Conflicting classifications of pathogenicity	rs33993004	RCV003886362
Thalassemia	Uncertain significance	rs12574989, rs1272414751	RCV001838687 RCV003517868

Associations from Text Mining
Disease Name	Relationship Type	References
Acro Osteolysis	Associate	35145077
Acute Chest Syndrome	Associate	23952145
Agenesis of Cerebellar Vermis	Associate	29961766
Albuminuria	Associate	27650483
Alcoholism	Associate	31494441
alpha Thalassemia	Associate	1276470, 1932755, 28901454, 2988669, 40441082, 873928
Altitude Sickness	Associate	33393624
Alzheimer Disease	Associate	32517787
Anemia	Associate	17768122, 2018842, 22244832, 25307880, 2581637, 28154185, 31124399, 33772535, 34764282, 34789072, 35289581, 35667093, 9209003
Anemia Hemolytic	Associate	1586746, 16189162, 22028795, 31399060, 31406232, 39225257, 7860732
Anemia Hemolytic Congenital	Associate	2996663
Anemia hypochromic microcytic	Associate	39262298
Anemia Macrocytic	Associate	39262298
Anemia Sickle Cell	Associate	10373600, 10651741, 11909945, 12907707, 13130139, 1346253, 14550808, 14587041, 15778708, 15828874, 16091448, 16356170, 16585504, 17493634, 17508724, 17556711, 17662889, 17688704, 18667698, 18829352, 19482945, 19603597, 20353593, 21264913, 21329186, 23409025, 23465615, 23952145, 24157834, 2421808, 24224700, 24290434, 2441779, 24786126, 25197158, 25702619, 25858298, 26137540, 26327979, 26394108, 26940952, 27022141, 2704745, 27406980, 27501013, 27525524, 27936141, 28115816, 28154185, 28249145, 28267358, 28280727, 28379995, 28760671, 28800727, 28912365, 2898142, 29157167, 29164808, 29345446, 29519807, 29526279, 29609623, 29614633, 29614637, 2996337, 30082871, 30108108, 30110085, 30119651, 30424953, 30520510, 30843001, 31158329, 31178391, 31213470, 31255831, 31634902, 31713857, 31830127, 32001505, 32034898, 32142671, 32503527, 32873924, 33238928, 33243953, 33357513, 33399855, 33689292, 34418541, 34585664, 34772994, 35087158, 35221311, 35247584, 35456398, 35785794, 36031983, 36106931, 36180284, 36330781, 36409722, 36633442, 36646975, 36705132, 36897914, 37190030, 3768534, 38081985, 38378484, 39205400, 39209956, 39267277, 39944193, 40362693, 40518656, 6162380, 6207872, 6272289, 6310991, 7477010, 7517214, 7531513, 7635951, 8571935, 8608254, 8630419, 873928, 8756085, 8892730, 8980265, 9604756, 9766796, 9883803
Aneuploidy	Associate	31092881, 33216308
Aortic Aneurysm Abdominal	Associate	29439675
Aortic Aneurysm Familial Abdominal 1	Associate	36341412
Aortic Aneurysm Thoracic	Associate	36341412
Arterial Occlusive Diseases	Associate	24786126, 32172616, 34772994, 37190030
Asthma	Associate	34326365, 37146352
ATR X syndrome	Associate	32111191
beta Thalassemia	Associate	10233364, 10331503, 10367791, 10367795, 10373600, 1055426, 10556289, 10606872, 10651741, 10706767, 10815781, 10840054, 10861808, 11074543, 11559932, 11559936, 11564083, 12139763, 12210807, 12393543, 12508270, 12751341, 12827652, 12846902, 12890746, 1362099, 1374896, 1391961, 14627823, 14687034, 1477672, 15009072, 15094716, 15256071, 15327529, 15352994, 1536956, 15566365, 15609277, 1586746, 15968446, 1600278, 16126871, 16184579, 16189162, 16225661, 16445840, 16470532, 16628732, 16924651, 1698102, 17034028, 17041717, 17094097, 17160997, 17229648, 17556711, 17665502, 17768122, 18326525, 18413893, 18534069, 1856830, 18694524, 18774771, 18796252, 19050890, 19251649, 19420802, 19460936, 19482945, 19506384, 19696200, 1971109, 19807730, 19810011, 1985702, 1986379, 1995096, 2001456, 20181291, 2018842, 2040696, 20557680, 20665635, 2089040, 21389146, 21390308, 21403433, 21732929, 21757944, 21879898, 22000492, 2214342, 22460946, 22871617, 23100274, 23319887, 23429513, 23852782, 23861885, 23878091, 2393018, 24155235, 24157834, 2439149, 2440502, 2441779, 2456798, 2458145, 2458154, 2462940, 25017762, 25243862, 2542242, 25469539, 2580095, 25849334, 25858298, 26156589, 26201722, 26292035, 26342260, 26377036, 26612711, 2665856, 26715484, 26771086, 27077761, 27080228, 2713503, 27288406, 27345970, 27351925, 27525524, 27526959, 27848919, 28120779, 28143837, 28154185, 2822177, 28235086, 28266198, 28272531, 28280727, 28379995, 28503568, 28595636, 28667000, 287080, 2876738, 28901454, 28942539, 2897787, 2898955, 2901867, 29157184, 2915972, 29164808, 2920213, 2920214, 29202846, 29295702, 29482624, 29519807, 29637841, 29669226, 2987224, 2987809, 2999697, 30044883, 3005579, 30079761, 30108108, 30119651, 3014870, 3033668, 30424953, 30520510, 30521599, 30531823, 30704988, 30777047, 30868793, 31092881, 31124399, 31134759, 31275994, 31406232, 31566929, 31631510, 31830127, 31941534, 32001505, 32111191, 32172616, 32473995, 32732363, 32798645, 32885601, 32912325, 32933098, 33033327, 33157391, 33191878, 33272312, 33491330, 33592169, 33845912, 33903312, 33940155, 33970899, 34385667, 34408192, 34585664, 3462712, 34708592, 34727790, 34886762, 34948226, 34951062, 35087158, 35141813, 35255977, 35269949, 35549527, 35563395, 35600576, 35615994, 36011295, 36114353, 36209112, 36210651, 36639729, 36898140, 36902239, 37015769, 37225409, 37339583, 37580329, 37672319, 37740604, 37815396, 37876062, 37890329, 37895316, 3799598, 38059617, 38062488, 38112059, 39267277, 4018033, 40197981, 461203, 4685090, 5009120, 6086605, 6089938, 6091839, 6166632, 6190800, 6210198, 6251466, 6256028, 6264391, 6264477, 6270195, 6270663, 6275383, 6280138, 6292840, 6298782, 6308558, 6310991, 6316272, 6327288, 6457059, 6572978, 6583702, 6585831, 6714226, 6826539, 6826735, 6933479, 6956887, 6985481, 7076659, 7162987, 71735, 7320200, 7477010, 7507736, 7567451, 7579421, 7632967, 7677966, 7682618, 7860732, 7885837, 8012089, 803101, 8101733, 8161774, 8178823, 8378346, 8619407, 8630419, 8835597, 88735, 8929650, 8978308, 9034292, 9055002, 9209003, 9423815, 9427726, 9544969, 9560205, 9792288, 9827907
beta Thalassemia	Stimulate	1932755, 9723583
beta Thalassemia	Inhibit	23209183, 25892530, 30859773, 31280628, 40004059, 40179812
Brain Ischemia	Associate	24642708
Breast Neoplasms	Associate	40462176
Carcinoma Ovarian Epithelial	Associate	34320033
Carcinoma Renal Cell	Associate	2704745, 36646975
Cardiomyopathy Dilated	Associate	28500252, 35052472
Carney Complex	Associate	38378484
Cholelithiasis	Associate	24265529
Clubfoot	Associate	35292718
Colorectal Neoplasms	Associate	24762493
Communicable Diseases	Associate	26394108
Complement Component 3 Deficiency Autosomal Recessive	Associate	2212005
Congenital Methemoglobinemia	Associate	15929117
COVID 19	Associate	35017110, 39174791
Critical Illness	Associate	39174791
Cyanosis	Associate	34789072, 36867085
Cystic Fibrosis	Associate	33357513, 9604756
Dacryocystitis	Associate	17362365
Death Sudden Cardiac	Associate	24642708
Delta Beta Thalassemia	Associate	11493481, 1689188, 2242432, 2458154, 2581637, 2798417, 2822174, 2875756, 3179447, 3345345, 3763397, 38212249, 6162860, 6196781, 6323412, 6327288, 6839025, 7515719, 7515720, 7680922, 9029004
delta Thalassemia	Associate	6307432
Diabetes Mellitus	Associate	31213470, 32020779, 37876062
Diabetes Mellitus Type 2	Associate	36339449
Disease	Associate	10050705, 1702028, 2542242, 35749392, 37015769, 6308057
Distal myopathy Nonaka type	Inhibit	37797812
Dizziness	Associate	36867085
DNA Virus Infections	Associate	25078150
Drug Hypersensitivity	Associate	2453359
Dyserythropoiesis Congenital with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin	Associate	16628732, 25585695
Dyskinesias	Associate	24468054
Encephalitis St. Louis	Associate	39262298
Endocrine System Diseases	Associate	37876062
Epilepsy Tonic Clonic	Associate	37876062, 8980265
Fatty Liver Alcoholic	Associate	21931690
Fetal Diseases	Associate	2425363, 7507736
Fibrosis	Associate	17135308, 17565724
Genetic Diseases Inborn	Associate	10373600, 1055426, 16356170, 23429513, 29961766, 35031571, 6208695
Glaucoma Open Angle	Associate	36002796
Glucosephosphate Dehydrogenase Deficiency	Associate	16356170, 31213470
Glutamate Monosodium Sensitivity	Associate	2997715
Glycogen Storage Disease 0 Muscle	Associate	11564083, 16126871, 26292035, 26394108, 26771086, 28763119, 33903312, 461203, 6327288
Glycogen Storage Disease XII	Associate	33887194
Growth Disorders	Associate	19149873
Heart Diseases	Associate	24642708
Heart Failure	Associate	28500252, 35346191, 39563337
Hemangioma Cavernous Central Nervous System	Associate	38378484
Hemoglobin C Disease	Associate	17160997, 25313792, 29609623, 33091040, 33874827, 36401470, 38110882, 6310991, 9034292
Hemoglobin M Disease	Associate	33251782
Hemoglobin SC Disease	Associate	26940952, 34418541, 36897914
Hemoglobinopathies	Associate	16103151, 16924651, 17722269, 1985702, 20872549, 22028795, 25313792, 26886832, 28379995, 29519807, 30424953, 32576837, 32755585, 33272312, 34510646, 34535703, 34585664, 35224763, 36106931, 37265399, 37782073, 40053336, 6275383, 7647405, 7860732, 8111050, 8178823, 8980265
Hemolysis	Associate	1586746, 26813021, 33776989, 34789072
Hepatitis C Chronic	Associate	17135308
Herpes Genitalis	Associate	26562701
Hyperplasia	Associate	16628732
Hypersensitivity Immediate	Associate	24802353
Hypertrophy Left Ventricular	Associate	28500252
Hypogonadism	Associate	37876062
Hypoparathyroidism	Associate	37876062
Hypothyroidism	Associate	37876062
Idiopathic Pulmonary Fibrosis	Associate	20836851
Infections	Associate	17688704
Inflammation	Associate	26694100, 26779447, 30666251
Iron Deficiencies	Associate	17135308
Iron Overload	Associate	39225257
Kidney Diseases	Associate	27650483
Leukemia Erythroblastic Acute	Associate	12393613, 15308321, 1705003, 6587773, 6595498, 8118043
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	7795240
Leukemia Myeloid Acute	Inhibit	36117408
Liver Cirrhosis	Associate	17135308
Liver Diseases	Associate	17565724
Lung Diseases	Associate	20836851
Malaria	Associate	1586746, 19149873, 20128890, 25261933, 26394108, 26516624, 28939159, 35031571, 817597
Methemoglobinemia	Associate	34789072, 38110882
Methemoglobinemia Alpha Globin Type	Associate	11559936
Methemoglobinemia Beta Globin Type	Associate	19327156, 26886832
Mucolipidosis II Alpha Beta	Associate	7218276
Multiple Organ Failure	Associate	8980265
Multiple Sclerosis	Associate	16504146, 26809286
Myelodysplastic Syndromes	Associate	35247584
Myocardial Infarction	Stimulate	24642708
Myocardial Ischemia	Stimulate	24642708
Neoplasm Metastasis	Associate	15309713
Neoplasms	Associate	15309713, 16542425, 23691506, 24489662, 29579369, 39563337
Neoplasms	Inhibit	15956966, 36117408
Neoplastic Syndromes Hereditary	Associate	6159595
Obesity	Associate	26694100
Obesity Maternal	Associate	31092881
Osteoporosis	Associate	33061329
Ovalocytosis Hereditary Hemolytic with Defective Erythropoiesis	Inhibit	40179812
Ovarian Neoplasms	Associate	15771624, 34320033
Pain	Associate	18667698, 21329186
Plasminogen Activator Inhibitor 1 Deficiency	Associate	34538821
Pneumonia	Associate	33357513
Polycystic Kidney Autosomal Dominant	Associate	36646975
Polycythemia	Associate	35052472
Polycythemia Vera	Associate	21355091
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	24290434
Prostatic Neoplasms	Associate	37070095
Protein S Deficiency	Associate	15858131, 26394108
Pseudoxanthoma Elasticum	Associate	31646622
Pulmonary Disease Chronic Obstructive	Associate	33874827, 34326365
Pulmonary Embolism	Associate	7647405
Relative Energy Deficiency in Sport	Associate	30645582
Renal Insufficiency Chronic	Associate	28115816, 33783510
Scalp ear nipple syndrome	Associate	38378484
Seizures	Associate	40140352
Severe Acute Respiratory Syndrome	Associate	12752111
Sickle Cell Trait	Associate	37358249
Spherocytosis Hereditary	Associate	33210974
Splenomegaly	Associate	24265529, 26771086, 9209003
Spondylocarpotarsal synostosis	Associate	29590102
Stomach Neoplasms	Associate	9231159
Stomatitis Aphthous	Associate	34341431
Stroke	Associate	36580209
Systemic carnitine deficiency	Associate	31713857
Thalassemia	Associate	10398311, 10944225, 11559936, 12498768, 1346253, 1374896, 15054814, 15329491, 15352994, 1557399, 1586746, 16263421, 17034028, 17768122, 19650141, 1986379, 20872549, 25017762, 25313792, 2542242, 25469539, 26516624, 26612711, 268654, 28135306, 28235086, 28595636, 28768465, 29880180, 2997715, 30119651, 30430775, 30520510, 30868793, 30940865, 31124399, 31399060, 31830127, 32111191, 32885601, 33272312, 33772535, 33960744, 34495151, 34708592, 34839893, 34951062, 35247584, 35289581, 35793787, 36861191, 36902239, 37265399, 37580329, 38062488, 38284449, 3840804, 39201263, 40140352, 40179812, 4018033, 40225154, 40377674, 40441082, 40536379, 6088226, 6210198, 6933479, 7147932, 7579421, 7935459, 8111050, 9371533, 9560205
Thalassemia	Inhibit	12393543, 27067481
Thyroid Cancer Papillary	Associate	15956966, 23691506
Thyroid Carcinoma Anaplastic	Associate	15956966
Tissue Adhesions	Associate	37385390
Transfusion Reaction	Associate	40377674
Turner Syndrome	Associate	25366798
Urethritis	Associate	22135257
Uterine Cervical Neoplasms	Associate	23349856
Walker Warburg Syndrome	Associate	39262298
Zazam Sheriff Phillips syndrome	Associate	39262298