PARN (poly(A)-specific ribonuclease)

Gene

• Entrez ID: 5073
• Gene name: Poly(A)-specific ribonuclease
• Gene symbol: PARN
• Synonyms: DAN, DKCB6, PFBMFT4
• Chromosome: 16
• Chromosome location: 16p13.12
• Summary: The protein encoded by this gene is a 3`-exoribonuclease, with similarity to the RNase D family of 3`-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201765587	T>A,C	Uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs751381953	T>C	Pathogenic	Splice acceptor variant, upstream transcript variant, genic upstream transcript variant, intron variant
rs754368658	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs756132866	C>A	Pathogenic	Splice donor variant, intron variant
rs757910862	T>C	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs759131762	ACTT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, splice donor variant, intron variant
rs777090017	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs778324179	T>C,G	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs786200999	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786201001	->T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs876661305	G>A	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs878853260	->A	Pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs942538351	A>-,AA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, stop gained
rs1064796768	T>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, intron variant, upstream transcript variant
rs1461036243	AT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555512179	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1596812454	->TGATTTCTAGACTCTAGAAA	Pathogenic	Inframe insertion, non coding transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022591	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024604	hsa-miR-215-5p	Microarray	19074876
MIRT026386	hsa-miR-192-5p	Microarray	19074876
MIRT608662	hsa-miR-8485	HITS-CLIP	23313552
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23313552
MIRT608662	hsa-miR-8485	HITS-CLIP	23313552
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23313552
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT674154	hsa-miR-507	HITS-CLIP	23824327
MIRT674153	hsa-miR-557	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	24906430
MIRT608661	hsa-miR-377-3p	HITS-CLIP	24906430
MIRT608661	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT608661	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT608661	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT674154	hsa-miR-507	HITS-CLIP	27418678
MIRT615293	hsa-miR-521	HITS-CLIP	27418678
MIRT674153	hsa-miR-557	HITS-CLIP	27418678
MIRT576623	hsa-miR-8485	HITS-CLIP	27418678
MIRT576623	hsa-miR-8485	HITS-CLIP	27418678
MIRT576623	hsa-miR-8485	HITS-CLIP	27418678
MIRT576623	hsa-miR-8485	HITS-CLIP	23313552
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23313552
MIRT576623	hsa-miR-8485	HITS-CLIP	23313552
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23313552
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT674154	hsa-miR-507	HITS-CLIP	23824327
MIRT674153	hsa-miR-557	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT1214325	hsa-miR-1302	CLIP-seq
MIRT1214326	hsa-miR-1587	CLIP-seq
MIRT1214327	hsa-miR-3613-5p	CLIP-seq
MIRT1214328	hsa-miR-4298	CLIP-seq
MIRT1214329	hsa-miR-4492	CLIP-seq
MIRT1214330	hsa-miR-4498	CLIP-seq
MIRT1214331	hsa-miR-4505	CLIP-seq
MIRT1214332	hsa-miR-4656	CLIP-seq
MIRT1214333	hsa-miR-4675	CLIP-seq
MIRT1214334	hsa-miR-4713-5p	CLIP-seq
MIRT1214335	hsa-miR-4741	CLIP-seq
MIRT1214336	hsa-miR-548aa	CLIP-seq
MIRT1214337	hsa-miR-649	CLIP-seq
MIRT1214338	hsa-miR-762	CLIP-seq
MIRT1214339	hsa-miR-1202	CLIP-seq
MIRT1214340	hsa-miR-1227	CLIP-seq
MIRT1214341	hsa-miR-1299	CLIP-seq
MIRT1214325	hsa-miR-1302	CLIP-seq
MIRT1214342	hsa-miR-1305	CLIP-seq
MIRT1214326	hsa-miR-1587	CLIP-seq
MIRT1214343	hsa-miR-2115	CLIP-seq
MIRT1214344	hsa-miR-3194-5p	CLIP-seq
MIRT1214345	hsa-miR-3609	CLIP-seq
MIRT1214327	hsa-miR-3613-5p	CLIP-seq
MIRT1214346	hsa-miR-3674	CLIP-seq
MIRT1214347	hsa-miR-377	CLIP-seq
MIRT1214348	hsa-miR-3935	CLIP-seq
MIRT1214349	hsa-miR-3972	CLIP-seq
MIRT1214350	hsa-miR-3978	CLIP-seq
MIRT1214328	hsa-miR-4298	CLIP-seq
MIRT1214329	hsa-miR-4492	CLIP-seq
MIRT1214330	hsa-miR-4498	CLIP-seq
MIRT1214331	hsa-miR-4505	CLIP-seq
MIRT1214351	hsa-miR-4511	CLIP-seq
MIRT1214352	hsa-miR-4522	CLIP-seq
MIRT1214353	hsa-miR-455-5p	CLIP-seq
MIRT1214332	hsa-miR-4656	CLIP-seq
MIRT1214354	hsa-miR-4670-3p	CLIP-seq
MIRT1214333	hsa-miR-4675	CLIP-seq
MIRT1214355	hsa-miR-4679	CLIP-seq
MIRT1214335	hsa-miR-4741	CLIP-seq
MIRT1214356	hsa-miR-4773	CLIP-seq
MIRT1214357	hsa-miR-548ah	CLIP-seq
MIRT1214358	hsa-miR-548b-3p	CLIP-seq
MIRT1214338	hsa-miR-762	CLIP-seq
MIRT1214359	hsa-miR-875-3p	CLIP-seq
MIRT1214360	hsa-miR-95	CLIP-seq
MIRT2061647	hsa-miR-2116	CLIP-seq
MIRT2061648	hsa-miR-2682	CLIP-seq
MIRT2061649	hsa-miR-361-3p	CLIP-seq
MIRT1214347	hsa-miR-377	CLIP-seq
MIRT2061650	hsa-miR-421	CLIP-seq
MIRT2061651	hsa-miR-4269	CLIP-seq
MIRT2061652	hsa-miR-449c	CLIP-seq
MIRT2061653	hsa-miR-4503	CLIP-seq
MIRT2061654	hsa-miR-4514	CLIP-seq
MIRT2061655	hsa-miR-4636	CLIP-seq
MIRT2061656	hsa-miR-4692	CLIP-seq
MIRT2061657	hsa-miR-4709-5p	CLIP-seq
MIRT2061658	hsa-miR-4736	CLIP-seq
MIRT2061659	hsa-miR-4742-5p	CLIP-seq
MIRT2061660	hsa-miR-4760-5p	CLIP-seq
MIRT2061661	hsa-miR-4798-3p	CLIP-seq
MIRT2061662	hsa-miR-505	CLIP-seq
MIRT2061663	hsa-miR-539	CLIP-seq
MIRT2061664	hsa-miR-657	CLIP-seq
MIRT2061665	hsa-miR-940	CLIP-seq
MIRT2290026	hsa-miR-3148	CLIP-seq
MIRT1214347	hsa-miR-377	CLIP-seq
MIRT2290027	hsa-miR-4420	CLIP-seq
MIRT2061653	hsa-miR-4503	CLIP-seq
MIRT2290028	hsa-miR-4668-5p	CLIP-seq
MIRT1214347	hsa-miR-377	CLIP-seq
MIRT1214341	hsa-miR-1299	CLIP-seq
MIRT1214345	hsa-miR-3609	CLIP-seq
MIRT2061649	hsa-miR-361-3p	CLIP-seq
MIRT1214350	hsa-miR-3978	CLIP-seq
MIRT1214351	hsa-miR-4511	CLIP-seq
MIRT1214352	hsa-miR-4522	CLIP-seq
MIRT2061655	hsa-miR-4636	CLIP-seq
MIRT1214354	hsa-miR-4670-3p	CLIP-seq
MIRT2588048	hsa-miR-4740-3p	CLIP-seq
MIRT1214356	hsa-miR-4773	CLIP-seq
MIRT2588049	hsa-miR-495	CLIP-seq
MIRT2061663	hsa-miR-539	CLIP-seq
MIRT1214357	hsa-miR-548ah	CLIP-seq
MIRT1214358	hsa-miR-548b-3p	CLIP-seq
MIRT1214359	hsa-miR-875-3p	CLIP-seq
MIRT1214341	hsa-miR-1299	CLIP-seq
MIRT1214345	hsa-miR-3609	CLIP-seq
MIRT1214350	hsa-miR-3978	CLIP-seq
MIRT1214351	hsa-miR-4511	CLIP-seq
MIRT1214352	hsa-miR-4522	CLIP-seq
MIRT1214354	hsa-miR-4670-3p	CLIP-seq
MIRT2588048	hsa-miR-4740-3p	CLIP-seq
MIRT1214356	hsa-miR-4773	CLIP-seq
MIRT2588049	hsa-miR-495	CLIP-seq
MIRT1214357	hsa-miR-548ah	CLIP-seq
MIRT1214358	hsa-miR-548b-3p	CLIP-seq
MIRT1214359	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000175	Function	3'-5'-exoribonuclease activity	IBA	21873635
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0000289	Process	Nuclear-transcribed mRNA poly(A) tail shortening	IBA	21873635
GO:0000289	Process	Nuclear-transcribed mRNA poly(A) tail shortening	TAS
GO:0000495	Process	Box H/ACA RNA 3'-end processing	IDA	22442037
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IBA	21873635
GO:0003730	Function	MRNA 3'-UTR binding	TAS	9736620
GO:0004518	Function	Nuclease activity	TAS	9736620
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IBA	21873635
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IDA	25049417
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IMP	26482878, 26950371
GO:0005515	Function	Protein binding	IPI	14731398, 20379136, 21876179
GO:0005634	Component	Nucleus	TAS	9736620
GO:0005730	Component	Nucleolus	IDA	22442037
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0007292	Process	Female gamete generation	TAS	9736620
GO:0009451	Process	RNA modification	TAS	9736620
GO:0010587	Process	MiRNA catabolic process	IDA	25049417
GO:0016607	Component	Nuclear speck	IDA
GO:0019901	Function	Protein kinase binding	IPI	20932473
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IMP	26482878, 26950371
GO:0043169	Function	Cation binding	IMP	15358788
GO:0043488	Process	Regulation of mRNA stability	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051973	Process	Positive regulation of telomerase activity	IMP	26482878
GO:0070034	Function	Telomerase RNA binding	IC	26482878, 26950371
GO:0071051	Process	Polyadenylation-dependent snoRNA 3'-end processing	IDA	22442037
GO:0090503	Process	RNA phosphodiester bond hydrolysis, exonucleolytic	IMP	26482878
GO:0090669	Process	Telomerase RNA stabilization	IMP	26482878, 26950371
GO:0110008	Process	NcRNA deadenylation	IMP	26482878, 26950371
GO:1904872	Process	Regulation of telomerase RNA localization to Cajal body	IMP	26950371

Other IDs

• MIM: 604212
• HGNC: 8609
• e!Ensembl: ENSG00000140694

Protein

• UniProt ID: O95453
• Protein name: Poly(A)-specific ribonuclease PARN (EC 3.1.13.4) (Deadenylating nuclease) (Deadenylation nuclease) (Polyadenylate-specific ribonuclease)
• Protein function: 3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence
• PDB: 2A1R, 2A1S, 3CTR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04857	CAF1	3 → 390	CAF1 family ribonuclease	Family
  PF08675	RNA_bind	437 → 515	RNA binding domain	Domain

• Sequence:

  MEIIRSNFKSNLHKVYQAIEEADFFAIDGEFSGISDGPSVSALTNGFDTPEERYQKLKKH
  SMDFLLFQFGLCTFKYDYTDSKYITKSFNFYVFPKPFNRSSPDVKFVCQSSSIDFLASQG
  FDFNKVFRNGIPYLNQEEERQLREQYDEKRSQANGAGALSYVSPNTSKCPVTIPEDQKKF
  IDQVVEKIEDLLQSEENKNLDLEPCTGFQRKLIYQTLSWKYPKGIHVETLETEKKERYIV
  ISKVDEEERKRREQQKHAKEQEELNDAVGFSRVIHAIANSGKLVIGHNMLLDVMHTVHQF
  YCPLPADLSEFKEMTTCVFPRLLDTKLMASTQPFKDIINNTSLAELEKRLKETPFNPPKV
  ESAEGFPSYDTASEQLHEAGYDAYITGLCFISMANYLGSFLSPPKIHVSARSKLIEPFFN
  KLFLMRVMDIPYLNLEGPDLQPKRDHVLHVTFPKEWKTSDLYQLFSAFGNIQISWIDDTS
  AFVSLSQPEQVKIAVNTSKYAESYRIQTYAEYMGRKQEEKQIKRKWTEDSWKEADSKRLN
  PQCIPYTLQNHYYRNNSFTAPSTVGKRNLSPSQEEAGLEDGVSGEISDTELEQTDSCAEP
  LSEGRKKAKKLKRMKKELSPAGSISKNSPATLFEVPDTW

• Sequence length: 639

Pathways

KEGG:

RNA degradation

Reactome:

ATF4 activates genes in response to endoplasmic reticulum stress
Deadenylation of mRNA
KSRP (KHSRP) binds and destabilizes mRNA

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Dyskeratosis congenita	Dyskeratosis Congenita, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6	rs121908092, rs121908089, rs121908090, rs121908091, rs121918543, rs121918544, rs121918545, rs1553915517, rs199422284, rs199476393, rs199422277, rs199422270, rs137854489, rs121912288, rs121912304, rs121918665, rs121918666, rs199422294, rs199422263, rs281865549, rs199473674, rs202138550, rs387907080, rs373905859, rs199473677, rs199473676, rs199473682, rs199473673, rs387907153, rs387907154, rs387907249, rs863223324, rs199422311, rs199422315, rs199422314, rs199422316, rs121912289, rs121912297, rs1554041299, rs199422297, rs199422298, rs199422305, rs199422255, rs199422269, rs199422274, rs199422278, rs199422257, rs199422262, rs199422264, rs199422266, rs199422267, rs199473679, rs397514660, rs281865547, rs201540674, rs370343781, rs398123017, rs398123048, rs398123051, rs373740199, rs398123052, rs786200999, rs756132866, rs786201001, rs797045144, rs776744306, rs863225129, rs886039438, rs1553915577, rs1553915591, rs745590324, rs942538351, rs1555512179, rs1444923772, rs1555899096, rs1555903332, rs1555814400, rs1553915580, rs770066110, rs1553915590, rs80224512, rs1555899111, rs200609323, rs1196342305, rs1285014916, rs773025155, rs895722334, rs1555811742, rs1555812228, rs1555812480, rs1421904176, rs1555811386, rs1555813123, rs1161373315, rs1555901832, rs961593162, rs1555813144, rs1415449695, rs1555814334, rs980695424, rs778734749, rs1555901000, rs780546933, rs1263776141, rs377024903, rs1555811966, rs1555812178, rs752833281, rs1555812834, rs1555814044, rs377461417, rs1567599296, rs764019241, rs1449687529, rs1569558474, rs767991627, rs1306444586, rs1596812454, rs915854031, rs1597422298, rs938938578, rs1597374251, rs745467709, rs1461036243, rs62637613, rs769617113, rs773120259, rs372031509	28297620, 25893599, 25893599, 26342108, 25848748, 31448843
Hoyeraal-hreidarsson syndrome	HOYERAAL-HREIDARSSON SYNDROME	rs28936072	25893599
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Periodontitis	Periodontitis	rs28937571, rs104894211, rs587777534
Pulmonary fibrosis	Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Familial Idiopathic Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578	25848748
Pulmonary fibrosis and/or bone marrow failure	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4	rs199422277, rs199422265, rs199422270, rs199422268, rs1777959964, rs121918666, rs199422300, rs199422309, rs199422294, rs111576740, rs387907247, rs201159197, rs387907249, rs387907250, rs2108183105, rs199422305, rs199422274, rs398123017, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs863225053, rs776744306, rs1555811762, rs1554043041, rs1553915580, rs1553915612, rs1553915617, rs1553915621, rs1554038539, rs1317757765, rs1579598699, rs1971361795, rs1469272825	25848748, 26116823, 26342108, 25893599
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Cerebellar hypoplasia	Cerebellar Hypoplasia
Cerebral cortical atrophy	Cerebral cortical atrophy
Cirrhosis	Cirrhosis	rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Diffuse interstitial pulmonary fibrosis	Hamman-Rich Disease		25848748
Dwarfism	Dwarfism
Esophageal stenosis	Esophageal Stenosis
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Honeycomb lung	Honeycomb lung
Hypodontia	Hypodontia
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Leukoplakia	Leukoplakia, Oral
Malabsorption syndrome	Malabsorption Syndrome
Nail dystrophy	Dystrophia unguium
Neoplasms	Neoplasms
Pancreatic neoplasm	Pancreatic Neoplasm
Hamman-rich syndrome	Hamman-Rich syndrome		25848748
Taurodontism	Taurodontism