SPTB (spectrin beta, erythrocytic)

Gene

• Entrez ID: 6710
• Gene name: Spectrin beta, erythrocytic
• Gene symbol: SPTB
• Synonyms (NCBI Gene): EL3, HS2, HSPTB1, SPH2
• Chromosome: 14
• Chromosome location: 14q23.3
• Summary: This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17180350	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121918645	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918646	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918647	G>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918648	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918649	A>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918650	C>G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121918651	T>C	Pathogenic	Missense variant, initiator codon variant
rs150471537	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs200386310	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs267607086	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204766	C>T	Likely-pathogenic	Splice donor variant
rs863223302	C>A	Pathogenic	Intron variant, genic downstream transcript variant
rs863223303	->TC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs863223304	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555366592	->AA	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555366607	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555367318	ACCTGGGCCTC>-	Pathogenic	Splice donor variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1555367359	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555367789	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1555370967	CACGAGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555371769	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566754467	C>A	Pathogenic	Stop gained, coding sequence variant
rs1594753904	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1594767593	G>A	Pathogenic	Stop gained, coding sequence variant
rs1594770057	T>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018509	hsa-miR-335-5p	Microarray	18185580
MIRT043541	hsa-miR-331-3p	CLASH	23622248
MIRT1386682	hsa-miR-1233	CLIP-seq
MIRT1386683	hsa-miR-1238	CLIP-seq
MIRT1386684	hsa-miR-125a-5p	CLIP-seq
MIRT1386685	hsa-miR-125b	CLIP-seq
MIRT1386686	hsa-miR-1275	CLIP-seq
MIRT1386687	hsa-miR-129-3p	CLIP-seq
MIRT1386688	hsa-miR-129-5p	CLIP-seq
MIRT1386689	hsa-miR-1299	CLIP-seq
MIRT1386690	hsa-miR-1470	CLIP-seq
MIRT1386691	hsa-miR-1913	CLIP-seq
MIRT1386692	hsa-miR-3158-3p	CLIP-seq
MIRT1386693	hsa-miR-324-3p	CLIP-seq
MIRT1386694	hsa-miR-3622a-3p	CLIP-seq
MIRT1386695	hsa-miR-3622b-3p	CLIP-seq
MIRT1386696	hsa-miR-3667-3p	CLIP-seq
MIRT1386697	hsa-miR-370	CLIP-seq
MIRT1386698	hsa-miR-3923	CLIP-seq
MIRT1386699	hsa-miR-3960	CLIP-seq
MIRT1386700	hsa-miR-4265	CLIP-seq
MIRT1386701	hsa-miR-4271	CLIP-seq
MIRT1386702	hsa-miR-4285	CLIP-seq
MIRT1386703	hsa-miR-4290	CLIP-seq
MIRT1386704	hsa-miR-4296	CLIP-seq
MIRT1386705	hsa-miR-4319	CLIP-seq
MIRT1386706	hsa-miR-4322	CLIP-seq
MIRT1386707	hsa-miR-4417	CLIP-seq
MIRT1386708	hsa-miR-4436b-5p	CLIP-seq
MIRT1386709	hsa-miR-4446-3p	CLIP-seq
MIRT1386710	hsa-miR-4467	CLIP-seq
MIRT1386711	hsa-miR-4493	CLIP-seq
MIRT1386712	hsa-miR-4506	CLIP-seq
MIRT1386713	hsa-miR-4640-5p	CLIP-seq
MIRT1386714	hsa-miR-4665-5p	CLIP-seq
MIRT1386715	hsa-miR-4691-5p	CLIP-seq
MIRT1386716	hsa-miR-4694-3p	CLIP-seq
MIRT1386717	hsa-miR-4695-5p	CLIP-seq
MIRT1386718	hsa-miR-4725-3p	CLIP-seq
MIRT1386719	hsa-miR-4726-5p	CLIP-seq
MIRT1386720	hsa-miR-4732-3p	CLIP-seq
MIRT1386721	hsa-miR-4747-5p	CLIP-seq
MIRT1386722	hsa-miR-4749-3p	CLIP-seq
MIRT1386723	hsa-miR-4763-5p	CLIP-seq
MIRT1386724	hsa-miR-4767	CLIP-seq
MIRT1386725	hsa-miR-4782-5p	CLIP-seq
MIRT1386726	hsa-miR-516b	CLIP-seq
MIRT1386727	hsa-miR-522	CLIP-seq
MIRT1386728	hsa-miR-548ae	CLIP-seq
MIRT1386729	hsa-miR-548aj	CLIP-seq
MIRT1386730	hsa-miR-548am	CLIP-seq
MIRT1386731	hsa-miR-548x	CLIP-seq
MIRT1386732	hsa-miR-628-3p	CLIP-seq
MIRT1386733	hsa-miR-629	CLIP-seq
MIRT1386734	hsa-miR-659	CLIP-seq
MIRT1386735	hsa-miR-670	CLIP-seq
MIRT1554121	hsa-miR-1261	CLIP-seq
MIRT1554122	hsa-miR-1267	CLIP-seq
MIRT1554123	hsa-miR-137	CLIP-seq
MIRT1554124	hsa-miR-3201	CLIP-seq
MIRT1554125	hsa-miR-4791	CLIP-seq
MIRT1554126	hsa-miR-654-3p	CLIP-seq
MIRT2115761	hsa-miR-1266	CLIP-seq
MIRT2115762	hsa-miR-3127-5p	CLIP-seq
MIRT2115763	hsa-miR-3135b	CLIP-seq
MIRT2115764	hsa-miR-3192	CLIP-seq
MIRT2115765	hsa-miR-3652	CLIP-seq
MIRT2115766	hsa-miR-3907	CLIP-seq
MIRT2115767	hsa-miR-3918	CLIP-seq
MIRT2115768	hsa-miR-4299	CLIP-seq
MIRT2115769	hsa-miR-4430	CLIP-seq
MIRT1386709	hsa-miR-4446-3p	CLIP-seq
MIRT2115770	hsa-miR-4456	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2115773	hsa-miR-4518	CLIP-seq
MIRT2115774	hsa-miR-548q	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT1386723	hsa-miR-4763-5p	CLIP-seq
MIRT2395125	hsa-miR-1587	CLIP-seq
MIRT2395126	hsa-miR-3176	CLIP-seq
MIRT2395127	hsa-miR-378g	CLIP-seq
MIRT2395128	hsa-miR-3922-3p	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2395129	hsa-miR-4656	CLIP-seq
MIRT2395130	hsa-miR-4675	CLIP-seq
MIRT2395131	hsa-miR-4741	CLIP-seq
MIRT2395132	hsa-miR-668	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT2395125	hsa-miR-1587	CLIP-seq
MIRT2395127	hsa-miR-378g	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2395129	hsa-miR-4656	CLIP-seq
MIRT2395130	hsa-miR-4675	CLIP-seq
MIRT2395131	hsa-miR-4741	CLIP-seq
MIRT2440793	hsa-miR-593	CLIP-seq
MIRT2440794	hsa-miR-661	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT2395125	hsa-miR-1587	CLIP-seq
MIRT2395127	hsa-miR-378g	CLIP-seq
MIRT2115771	hsa-miR-4492	CLIP-seq
MIRT2115772	hsa-miR-4498	CLIP-seq
MIRT2395129	hsa-miR-4656	CLIP-seq
MIRT2395130	hsa-miR-4675	CLIP-seq
MIRT2395131	hsa-miR-4741	CLIP-seq
MIRT2440793	hsa-miR-593	CLIP-seq
MIRT2440794	hsa-miR-661	CLIP-seq
MIRT2115775	hsa-miR-762	CLIP-seq
MIRT2460490	hsa-miR-339-5p	CLIP-seq
MIRT1386682	hsa-miR-1233	CLIP-seq
MIRT2691934	hsa-miR-146b-3p	CLIP-seq
MIRT2691935	hsa-miR-1914	CLIP-seq
MIRT2691936	hsa-miR-3157-3p	CLIP-seq
MIRT2691937	hsa-miR-383	CLIP-seq
MIRT2691938	hsa-miR-3942-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	2195026
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	10751147, 12820899, 16060676, 20197550, 23414517, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0008091	Component	Spectrin	IEA
GO:0008091	Component	Spectrin	TAS	8226774
GO:0009898	Component	Cytoplasmic side of plasma membrane	TAS	10950304
GO:0009986	Component	Cell surface	IDA	10867799
GO:0014731	Component	Spectrin-associated cytoskeleton	IDA	379653
GO:0014731	Component	Spectrin-associated cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	10950304
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030054	Component	Cell junction	IBA
GO:0030506	Function	Ankyrin binding	IEA
GO:0030506	Function	Ankyrin binding	IPI	8159688
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0032991	Component	Protein-containing complex	IDA	16060676
GO:0042995	Component	Cell projection	IBA
GO:0045202	Component	Synapse	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	16060676
GO:0051015	Function	Actin filament binding	IEA
GO:0051693	Process	Actin filament capping	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098885	Process	Modification of postsynaptic actin cytoskeleton	IDA	21297961
GO:0098885	Process	Modification of postsynaptic actin cytoskeleton	IMP	21297961
GO:0098978	Component	Glutamatergic synapse	IDA	21297961
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IMP	21297961

Other IDs

• MIM: 182870
• HGNC: 11274
• e!Ensembl: ENSG00000070182

Protein

• UniProt ID: P11277
• Protein name: Spectrin beta chain, erythrocytic (Beta-I spectrin)
• Protein function: Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.
• PDB: 1S35, 3EDU, 3F57, 3KBT, 3KBU, 3LBX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	54 → 159	Calponin homology (CH) domain	Domain
  PF00307	CH	173 → 279	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	302 → 412	Spectrin repeat	Domain
  PF00435	Spectrin	422 → 526	Spectrin repeat	Domain
  PF00435	Spectrin	528 → 635	Spectrin repeat	Domain
  PF00435	Spectrin	637 → 741	Spectrin repeat	Domain
  PF00435	Spectrin	743 → 846	Spectrin repeat	Domain
  PF00435	Spectrin	848 → 952	Spectrin repeat	Domain
  PF00435	Spectrin	954 → 1059	Spectrin repeat	Domain
  PF00435	Spectrin	1061 → 1166	Spectrin repeat	Domain
  PF00435	Spectrin	1168 → 1272	Spectrin repeat	Domain
  PF00435	Spectrin	1274 → 1377	Spectrin repeat	Domain
  PF00435	Spectrin	1385 → 1482	Spectrin repeat	Domain
  PF00435	Spectrin	1478 → 1582	Spectrin repeat	Domain
  PF00435	Spectrin	1584 → 1688	Spectrin repeat	Domain
  PF00435	Spectrin	1690 → 1795	Spectrin repeat	Domain
  PF00435	Spectrin	1797 → 1901	Spectrin repeat	Domain
  PF00435	Spectrin	1903 → 2007	Spectrin repeat	Domain
  PF00435	Spectrin	2009 → 2095	Spectrin repeat	Domain

• Sequence:

  MTSATEFENVGNQPPYSRINARWDAPDDELDNDNSSARLFERSRIKALADEREVVQKKTF
  TKWVNSHLARVSCRITDLYKDLRDGRMLIKLLEVLSGEMLPKPTKGKMRIHCLENVDKAL
  QFLKEQRVHLENMGSHDIVDGNHRLVLGLIWTIILRFQIQDIVVQTQEGRETRSAKDALL
  LWCQMKTAGYPHVNVTNFTSSWKDGLAFNALIHKHRPDLIDFDKLKDSNARHNLEHAFNV
  AERQLGIIPLLDPEDVFTENPDEKSIITYVVAFYHYFSKMKVLAVEGKRVGKVIDHAIET
  EKMIEKYSGLASDLLTWIEQTITVLNSRKFANSLTGVQQQLQAFSTYRTVEKPPKFQEKG
  NLEVLLFTIQSRMRANNQKVYTPHDGKLVSDINRAWESLEEAEYRRELALRNELIRQEKL
  EQLARRFDRKAAMRETWLSENQRLVAQDNFGYDLAAVEAAKKKHEAIETDTAAYEERVRA
  LEDLAQELEKENYHDQKRITARKDNILRLWSYLQELLQSRRQRLETTLALQKLFQDMLHS
  IDWMDEIKAHLLSAEFGKHLLEVEDLLQKHKLMEADIAIQGDKVKAITAATLKFTEGKGY
  QPCDPQVIQDRISHLEQCFEELSNMAAGRKAQLEQSKRLWKFFWEMDEAESWIKEKEQIY
  SSLDYGKDLTSVLILQRKHKAFEDELRGLDAHLEQIFQEAHGMVARKQFGHPQIEARIKE
  VSAQWDQLKDLAAFCKKNLQDAENFFQFQGDADDLKAWLQDAHRLLSGEDVGQDEGATRA
  LGKKHKDFLEELEESRGVMEHLEQQAQGFPEEFRDSPDVTHRLQALRELYQQVVAQADLR
  QQRLQEALDLYTVFGETDACELWMGEKEKWLAEMEMPDTLEDLEVVQHRFDILDQEMKTL
  MTQIDGVNLAANSLVESGHPRSREVKQYQDHLNTRWQAFQTLVSERREAVDSALRVHNYC
  VDCEETSKWITDKTKVVESTKDLGRDLAGIIAIQRKLSGLERDVAAIQARVDALERESQQ
  LMDSHPEQKEDIGQRQKHLEELWQGLQQSLQGQEDLLGEVSQLQAFLQDLDDFQAWLSIT
  QKAVASEDMPESLPEAEQLLQQHAGIKDEIDGHQDSYQRVKESGEKVIQGQTDPEYLLLG
  QRLEGLDTGWNALGRMWESRSHTLAQCLGFQEFQKDAKQAEAILSNQEYTLAHLEPPDSL
  EAAEAGIRKFEDFLGSMENNRDKVLSPVDSGNKLVAEGNLYSDKIKEKVQLIEDRHRKNN
  EKAQEASVLLRDNLELQNFLQNCQELTLWINDKLLTSQDVSYDEARNLHNKWLKHQAFVA
  ELASHEGWLENIDAEGKQLMDEKPQFTALVSQKLEALHRLWDELQATTKEKTQHLSAARS
  SDLRLQTHADLNKWISAMEDQLRSDDPGKDLTSVNRMLAKLKRVEDQVNVRKEELGELFA
  QVPSMGEEGGDADLSIEKRFLDLLEPLGRRKKQLESSRAKLQISRDLEDETLWVEERLPL
  AQSADYGTNLQTVQLFMKKNQTLQNEILGHTPRVEDVLQRGQQLVEAAEIDCQDLEERLG
  HLQSSWDRLREAAAGRLQRLRDANEAQQYYLDADEAEAWIGEQELYVISDEIPKDEEGAI
  VMLKRHLRQQRAVEDYGRNIKQLASRAQGLLSAGHPEGEQIIRLQGQVDKHYAGLKDVAE
  ERKRKLENMYHLFQLKRETDDLEQWISEKELVASSPEMGQDFDHVTLLRDKFRDFARETG
  AIGQERVDNVNAFIERLIDAGHSEAATIAEWKDGLNEMWADLLELIDTRMQLLAASYDLH
  RYFYTGAEILGLIDEKHRELPEDVGLDASTAESFHRVHTAFERELHLLGVQVQQFQDVAT
  RLQTAYAGEKAEAIQNKEQEVSAAWQALLDACAGRRTQLVDTADKFRFFSMARDLLSWME
  SIIRQIETQERPRDVSSVELLMKYHQGINAEIETRSKNFSACLELGESLLQRQHQASEEI
  REKLQQVMSRRKEMNEKWEARWERLRMLLEVCQFSRDASVAEAWLIAQEPYLASGDFGHT
  VDSVEKLIKRHEAFEKSTASWAERFAALEKPTTLELKERQIAERPAEETGPQEEEGETAG
  EAPVSHHAATERTSPVSLWSRLSSSWESLQPEPSHPY

• Sequence length: 2137

Pathways

Reactome:

NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Anemia	Pathogenic	rs2503173064	RCV004798959
Chudley-McCullough syndrome	Likely pathogenic; Pathogenic	rs757836263	RCV004813174
Elliptocytosis 3	Likely pathogenic; Pathogenic	rs1235889026, rs2139560811, rs757425728, rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs267607086	RCV006249394 RCV001824279 RCV005008761 RCV000013679 RCV000013680 RCV000013682 RCV000013683 RCV000013687 RCV000013688 RCV000013692 RCV005007841
Hemolytic anemia	Pathogenic	rs1555367318	RCV000626665
Hereditary spherocytosis	Likely pathogenic; Pathogenic	rs2503160116, rs1555366607, rs1555366592, rs1566754467	RCV003234638 RCV000625738 RCV000626334 RCV000766108
Hereditary spherocytosis type 2	Likely pathogenic; Pathogenic	rs757836263, rs2139596300, rs763084936, rs2139613101, rs1480466529, rs2139511447, rs2503301874, rs2503119189, rs2139632398, rs2503032968, rs763716590, rs2503157868, rs2503219666, rs2503160747, rs1182150046, rs767566180, rs2502975834, rs2503156034, rs2503173041, rs2503048077, rs2503090652, rs2503198272, rs777962458, rs2503112553, rs150328574, rs2503060655, rs2503065505, rs2503065637, rs2503173416, rs2503157076, rs2503119018, rs751809792, rs2503047710, rs2503091165, rs2503060918, rs2503150240, rs2503162476, rs2503219644, rs2503130656, rs2503060526, rs2503060145, rs786204766, rs757425728, rs2503227366, rs200386310, rs2503102921, rs762902447, rs2503038679, rs2503210409, rs2503160354, rs121918646, rs121918648, rs121918651, rs863223304, rs267607086, rs2503066387, rs2503070132, rs2503130437, rs2503162325, rs2503055611, rs766122956, rs2503213570, rs2503119393, rs2503173177, rs2503167736, rs1555367359, rs1555367789, rs150471537, rs1555369657, rs1555370967, rs1594773586, rs1594767593, rs1345709572, rs2139513700, rs2139555500, rs2139567892, rs2139592237, rs2139594261, rs2139621075, rs760938057	RCV004762150 RCV003326582 RCV001822889 RCV001805745 RCV001807992 RCV002291006 RCV002291032 RCV002291033 RCV002291034 RCV002291035 RCV002291036 RCV002291037 RCV002291038 RCV002291039 RCV002291040 RCV002291041 RCV002291042 RCV002291043 RCV002291044 RCV002291045 RCV002291046 RCV002291047 RCV002291049 RCV002291050 RCV002291051 RCV002291052 RCV002291053 RCV002291054 RCV002291055 RCV002291056 RCV002291057 RCV002291059 RCV002291060 RCV002291061 RCV002464045 RCV003108004 RCV002283735 RCV002283831 RCV002283991 RCV002287289 RCV002290397 RCV000169630 RCV005008761 RCV003989787 RCV000490389 RCV002790007 RCV003152886 RCV003314501 RCV003340828 RCV003337902 RCV000013684 RCV001004906 RCV000013693 RCV000013694 RCV000013696 RCV003388267 RCV003388657 RCV003388788 RCV003388808 RCV003484985 RCV005860380 RCV003986007 RCV004577053 RCV004587654 RCV004586375 RCV000655914 RCV000655910 RCV000655913 RCV000655909 RCV000655907 RCV000984331 RCV002290981 RCV001089997 RCV001534601 RCV001534600 RCV001534599 RCV001534604 RCV001534603 RCV001534602 RCV004789514
Pyropoikilocytosis, hereditary	Pathogenic	rs121918647	RCV000013686
See cases	Pathogenic	rs2503159407	RCV002287648
SPTB-related disorder	Likely pathogenic; Pathogenic	rs2139533161, rs2139511447, rs121918648, rs2503066387, rs2503198675, rs2502976776, rs1396334985, rs2503123019, rs2503042184, rs2503163168, rs2503180411, rs2503129257, rs2503167593, rs2082573854, rs1566775577	RCV004728817 RCV003948842 RCV004724739 RCV003400383 RCV003399563 RCV003399581 RCV003412391 RCV003418924 RCV003410885 RCV003416968 RCV003897077 RCV003911981 RCV003949851 RCV004727075 RCV003908497

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL	Conflicting classifications of pathogenicity	rs121918649	RCV000013691
Elliptocytosis	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs11622977, rs56181906, rs75000411, rs7142689, rs17180252, rs229592, rs4899145, rs4902310, rs4902311, rs184528, rs4902312, rs1741489, rs1741488, rs1741487, rs1626923, rs229639, rs17245552, rs17180350, rs10132778, rs78707026, rs77806, rs147235045, rs12433436, rs229591, rs3742602, rs3742601, rs229587, rs229586, rs230703, rs17102119, rs11623956, rs229581, rs2277503, rs189086, rs543583423, rs886050611, rs200787781, rs764560431, rs190765118, rs886050615, rs368290807, rs199780681, rs774462377, rs76283214, rs886050622, rs746055042, rs139116435, rs145675502, rs755636829, rs141973081, rs146651264, rs886050627, rs17180518, rs141340359, rs375654121, rs773780733, rs200508249, rs114513294, rs767020547, rs772761835, rs886050614, rs138279396, rs886050617, rs766420023, rs886050618, rs374648585, rs72724498, rs144219025, rs147712872, rs867858924, rs755434241, rs61459051, rs886050625, rs150968094, rs141060172, rs115882528, rs74666863, rs748108358, rs757763783, rs145077630, rs371035446, rs528966701, rs886050612, rs146561732, rs140141633, rs886050613, rs756366285, rs73273601, rs760176952, rs200876438, rs764571605, rs200908449, rs184962510, rs886050624, rs145315673, rs752079707, rs149521594, rs139699062, rs753928319, rs572325909, rs229601, rs756164746, rs201267737, rs774241447, rs229593, rs886050616, rs758611621, rs375478086, rs886050619, rs189656371, rs191583247, rs200385949, rs886050620, rs141173028, rs143827332, rs1047765, rs146031194, rs886050621, rs538347576, rs74056006, rs886050623, rs140796444, rs886050626, rs780179918, rs138841945, rs764534275, rs138437526, rs150698819	RCV000346615 RCV000260752 RCV000356674 RCV000385714 RCV000337365 RCV000317563 RCV000321827 RCV000382354 RCV000402460 RCV000297147 RCV000358293 RCV000380340 RCV000387410 RCV000352735 RCV000309698 RCV000364275 RCV000306018 RCV000321241 RCV000372015 RCV000408247 RCV000370587 RCV000283554 RCV000309807 RCV000352346 RCV000267682 RCV000295049 RCV000338831 RCV000368699 RCV000334353 RCV000312623 RCV000262323 RCV000332167 RCV000304940 RCV000310634 RCV000371404 RCV000374916 RCV000403325 RCV000290321 RCV000405893 RCV000364199 RCV000326786 RCV000296462 RCV000288968 RCV000260948 RCV000264053 RCV000260866 RCV000342983 RCV000303487 RCV000330884 RCV000329227 RCV000282927 RCV000321491 RCV000260673 RCV000408095 RCV000321880 RCV000293689 RCV000305906 RCV000362894 RCV000296704 RCV000284990 RCV000405791 RCV000286692 RCV000354478 RCV000265771 RCV000313273 RCV000290473 RCV000353842 RCV000270879 RCV000267188 RCV000337297 RCV000307726 RCV000306950 RCV000354950 RCV000370402 RCV000270118 RCV000294979 RCV000268079 RCV000349599 RCV000290958 RCV000343687 RCV000276326 RCV000343306 RCV000403704 RCV000315204 RCV000325444 RCV000359511 RCV000316717 RCV000281513 RCV000351040 RCV000349127 RCV000404059 RCV000377001 RCV000403276 RCV000346321 RCV000403028 RCV000391465 RCV000369811 RCV000359327 RCV000297871 RCV000311935 RCV000321275 RCV000378211 RCV000328227 RCV000274337 RCV000310519 RCV000275113 RCV000332778 RCV000375251 RCV000262233 RCV000292952 RCV000405949 RCV000402899 RCV000300914 RCV000331133 RCV000286900 RCV000392924 RCV000313348 RCV000326052 RCV000393004 RCV000373801 RCV000349718 RCV000382998 RCV000379371 RCV000405894 RCV000352235 RCV000403154 RCV000356316 RCV000287358
Familial cancer of breast	Conflicting classifications of pathogenicity	rs229593	RCV005893277
Familial hemolytic anemia	Uncertain significance; Likely benign	rs1555364743, rs1555364746, rs372733273	RCV000655912 RCV000655911 RCV000655915
Hereditary spherocytosis type 3	Conflicting classifications of pathogenicity	rs1594796374	RCV005863326
Melanoma	Benign; Likely benign	rs143820600	RCV005910895
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs760218658	RCV005927036
Spherocytosis	not provided; Uncertain significance	rs2139530241, rs566689631	RCV001787287 RCV003582170
Spherocytosis, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs11622977, rs56181906, rs75000411, rs7142689, rs17180252, rs229592, rs4899145, rs4902310, rs4902311, rs184528, rs4902312, rs1741489, rs1741488, rs1741487, rs1626923, rs229639, rs17245552, rs17180350, rs10132778, rs78707026, rs77806, rs147235045, rs12433436, rs229591, rs3742602, rs3742601, rs229587, rs229586, rs230703, rs17102119, rs11623956, rs229581, rs2277503, rs189086, rs543583423, rs886050611, rs200787781, rs764560431, rs190765118, rs886050615, rs368290807, rs199780681, rs774462377, rs76283214, rs886050622, rs746055042, rs139116435, rs145675502, rs755636829, rs141973081, rs146651264, rs886050627, rs17180518, rs141340359, rs375654121, rs773780733, rs200508249, rs114513294, rs767020547, rs772761835, rs886050614, rs138279396, rs886050617, rs766420023, rs886050618, rs374648585, rs72724498, rs144219025, rs147712872, rs867858924, rs755434241, rs61459051, rs886050625, rs150968094, rs141060172, rs115882528, rs74666863, rs748108358, rs757763783, rs145077630, rs371035446, rs528966701, rs886050612, rs146561732, rs140141633, rs886050613, rs756366285, rs73273601, rs760176952, rs200876438, rs764571605, rs200908449, rs184962510, rs886050624, rs145315673, rs752079707, rs149521594, rs139699062, rs753928319, rs572325909, rs229601, rs756164746, rs201267737, rs774241447, rs229593, rs886050616, rs758611621, rs375478086, rs886050619, rs189656371, rs191583247, rs200385949, rs886050620, rs141173028, rs143827332, rs1047765, rs146031194, rs886050621, rs538347576, rs74056006, rs886050623, rs140796444, rs886050626, rs780179918, rs138841945, rs764534275, rs138437526, rs150698819	RCV000289372 RCV000299613 RCV000264319 RCV000347558 RCV000390805 RCV000259957 RCV000378711 RCV000289779 RCV000347628 RCV000405536 RCV000301124 RCV000269519 RCV000295488 RCV000406879 RCV000390547 RCV000269778 RCV000360695 RCV000266118 RCV000317379 RCV000347404 RCV000276049 RCV000338562 RCV000273363 RCV000278626 RCV000304071 RCV000389341 RCV000391473 RCV000271794 RCV000281698 RCV000346394 RCV000319838 RCV000389049 RCV000343468 RCV000365346 RCV000276822 RCV000315627 RCV000349988 RCV000381850 RCV000278398 RCV000307239 RCV000383759 RCV000332747 RCV000343976 RCV000316138 RCV000358816 RCV000316040 RCV000406610 RCV000358248 RCV000273442 RCV000362952 RCV000379719 RCV000373860 RCV000372245 RCV000303586 RCV000378804 RCV000350974 RCV000397120 RCV000270638 RCV000388695 RCV000391797 RCV000342220 RCV000344056 RCV000261981 RCV000323146 RCV000349400 RCV000326706 RCV000404281 RCV000365504 RCV000322302 RCV000373232 RCV000362442 RCV000408007 RCV000260602 RCV000332118 RCV000322815 RCV000393095 RCV000360454 RCV000292283 RCV000383070 RCV000408063 RCV000333712 RCV000381597 RCV000311750 RCV000353639 RCV000268024 RCV000302354 RCV000373712 RCV000338864 RCV000312530 RCV000291893 RCV000298942 RCV000282630 RCV000349076 RCV000291453 RCV000300035 RCV000281463 RCV000298689 RCV000302256 RCV000355095 RCV000275578 RCV000263821 RCV000286123 RCV000366566 RCV000331736 RCV000406158 RCV000367573 RCV000371053 RCV000283035 RCV000357121 RCV000387164 RCV000303974 RCV000358711 RCV000355761 RCV000385687 RCV000381318 RCV000342059 RCV000368002 RCV000380614 RCV000312823 RCV000319100 RCV000385612 RCV000291040 RCV000327115 RCV000311567 RCV000406739 RCV000306714 RCV000263879 RCV000340064
Uterine carcinosarcoma	Uncertain significance	rs371628390	RCV005929201
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs229593	RCV005893278

Associations from Text Mining
Disease Name	Relationship Type	References
Acquired Immunodeficiency Syndrome	Associate	25009819
Anemia Diamond Blackfan	Associate	33847457
Anemia Hemolytic Congenital	Associate	35406697, 37697358
Anemia Neonatal	Associate	9005995
Anemia Sickle Cell	Associate	19650141, 9395185
Arthritis Rheumatoid	Associate	18952640
beta Thalassemia	Associate	9395185
Cognition Disorders	Associate	30656857
Elliptocytosis Hereditary	Associate	1498324, 27667160
Glomerulonephritis IGA	Associate	32113667
Heart Septal Defects Atrial	Associate	34182956
Histiocytosis with joint contractures and sensorineural deafness	Associate	33284430
HIV Infections	Associate	25009819
Hydrops Fetalis	Associate	33761640
Hyperbilirubinemia	Associate	34672909
Immune System Diseases	Associate	18323783
Neoplasms	Associate	19324871, 24289586
Nephrotic Syndrome	Associate	32113667
Premature Birth	Associate	29128634
Prostatic Neoplasms	Associate	24289586
Pyropoikilocytosis Hereditary	Associate	27667160
Spherocytosis Hereditary	Associate	29505016, 31122244, 31126250, 31602632, 32266426, 32436265, 33620149, 33761640, 33943044, 34182956, 34672909, 34681667, 35406697, 37385619, 38069343, 39521890, 40389840, 9450796, 9609518
Spherocytosis Type 1	Associate	21360829, 32113667, 33943044, 37306287
Spinocerebellar Ataxias	Associate	9609518
Thalassemia	Associate	11559936