ACVR1 (activin A receptor type 1)

Gene

• Entrez ID: 90
• Gene name: Activin A receptor type 1
• Gene symbol: ACVR1
• Synonyms: ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI
• Chromosome: 2
• Chromosome location: 2q24.1
• Summary: Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912678	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121912679	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912680	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs387906588	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs387906589	C>A,T	Pathogenic, other, likely-pathogenic	Coding sequence variant, missense variant
rs387906590	C>G	Pathogenic	Coding sequence variant, missense variant
rs387906591	C>A	Pathogenic	Coding sequence variant, missense variant
rs797045135	A>G	Pathogenic	Coding sequence variant, missense variant
rs863224846	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs1057519875	C>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000216	hsa-miR-197-3p	Microarray, qRT-PCR	16822819
MIRT006946	hsa-miR-148a-3p	Luciferase reporter assay	22408438
MIRT007141	hsa-miR-130a-3p	qRT-PCR	23418453
MIRT018362	hsa-miR-335-5p	Microarray	18185580
MIRT020339	hsa-miR-130b-3p	Sequencing	20371350
MIRT021192	hsa-miR-186-5p	Sequencing	20371350
MIRT031253	hsa-miR-19b-3p	Sequencing	20371350
MIRT054060	hsa-miR-148b-3p	Luciferase reporter assay, qRT-PCR	23227223
MIRT054060	hsa-miR-148b-3p	Luciferase reporter assay, qRT-PCR	23227223
MIRT054061	hsa-miR-365a-3p	Luciferase reporter assay, qRT-PCR	23227223
MIRT054061	hsa-miR-365a-3p	Luciferase reporter assay, qRT-PCR	23227223
MIRT054062	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR	23227223
MIRT054123	hsa-let-7b-5p	Luciferase reporter assay, Microarray, qRT-PCR	22995917
MIRT689094	hsa-miR-4310	HITS-CLIP	23313552
MIRT689093	hsa-miR-7157-5p	HITS-CLIP	23313552
MIRT689092	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT689091	hsa-miR-1972	HITS-CLIP	23313552
MIRT689090	hsa-miR-4650-5p	HITS-CLIP	23313552
MIRT689089	hsa-miR-338-3p	HITS-CLIP	23313552
MIRT689088	hsa-miR-4638-3p	HITS-CLIP	23313552
MIRT689087	hsa-miR-7977	HITS-CLIP	23313552
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT549437	hsa-miR-3666	PAR-CLIP	21572407
MIRT549436	hsa-miR-4295	PAR-CLIP	21572407
MIRT549435	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT549434	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT007141	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020339	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT549433	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT006946	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR	25271001
MIRT006946	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR	25271001
MIRT689094	hsa-miR-4310	HITS-CLIP	23313552
MIRT689093	hsa-miR-7157-5p	HITS-CLIP	23313552
MIRT689092	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT689091	hsa-miR-1972	HITS-CLIP	23313552
MIRT689090	hsa-miR-4650-5p	HITS-CLIP	23313552
MIRT689089	hsa-miR-338-3p	HITS-CLIP	23313552
MIRT689088	hsa-miR-4638-3p	HITS-CLIP	23313552
MIRT689087	hsa-miR-7977	HITS-CLIP	23313552
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT549437	hsa-miR-3666	PAR-CLIP	21572407
MIRT549436	hsa-miR-4295	PAR-CLIP	21572407
MIRT549435	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT549434	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT007141	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020339	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT549433	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT549432	hsa-miR-384	PAR-CLIP	21572407
MIRT549431	hsa-miR-3133	PAR-CLIP	21572407
MIRT021192	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT549430	hsa-miR-5197-3p	PAR-CLIP	21572407
MIRT549429	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT549427	hsa-miR-6080	PAR-CLIP	21572407
MIRT549428	hsa-miR-4671-3p	PAR-CLIP	21572407
MIRT549426	hsa-miR-5571-3p	PAR-CLIP	21572407
MIRT549425	hsa-miR-7975	PAR-CLIP	21572407
MIRT764851	hsa-miR-1237	CLIP-seq
MIRT764852	hsa-miR-1248	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT764854	hsa-miR-549	CLIP-seq
MIRT764855	hsa-miR-1184	CLIP-seq
MIRT764856	hsa-miR-1205	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764851	hsa-miR-1237	CLIP-seq
MIRT764858	hsa-miR-1246	CLIP-seq
MIRT764852	hsa-miR-1248	CLIP-seq
MIRT764859	hsa-miR-128	CLIP-seq
MIRT764860	hsa-miR-1293	CLIP-seq
MIRT764861	hsa-miR-203	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT764863	hsa-miR-2110	CLIP-seq
MIRT764864	hsa-miR-27a	CLIP-seq
MIRT764865	hsa-miR-27b	CLIP-seq
MIRT764866	hsa-miR-2964a-5p	CLIP-seq
MIRT764867	hsa-miR-3117-5p	CLIP-seq
MIRT764868	hsa-miR-3134	CLIP-seq
MIRT764869	hsa-miR-3150a-3p	CLIP-seq
MIRT764870	hsa-miR-3158-5p	CLIP-seq
MIRT764871	hsa-miR-330-3p	CLIP-seq
MIRT764872	hsa-miR-365	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT764874	hsa-miR-4260	CLIP-seq
MIRT764875	hsa-miR-4302	CLIP-seq
MIRT764876	hsa-miR-4312	CLIP-seq
MIRT764877	hsa-miR-4320	CLIP-seq
MIRT764878	hsa-miR-4419a	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764880	hsa-miR-4474-5p	CLIP-seq
MIRT764881	hsa-miR-4483	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764883	hsa-miR-4510	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT764886	hsa-miR-4728-5p	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT764887	hsa-miR-513a-5p	CLIP-seq
MIRT764888	hsa-miR-514	CLIP-seq
MIRT764889	hsa-miR-514b-3p	CLIP-seq
MIRT764890	hsa-miR-526b	CLIP-seq
MIRT764891	hsa-miR-593	CLIP-seq
MIRT764892	hsa-miR-876-3p	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764860	hsa-miR-1293	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT764866	hsa-miR-2964a-5p	CLIP-seq
MIRT1925345	hsa-miR-3611	CLIP-seq
MIRT764872	hsa-miR-365	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT1925346	hsa-miR-3662	CLIP-seq
MIRT1925347	hsa-miR-3977	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764881	hsa-miR-4483	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT1925348	hsa-miR-4799-5p	CLIP-seq
MIRT1925349	hsa-miR-518a-5p	CLIP-seq
MIRT1925350	hsa-miR-527	CLIP-seq
MIRT1925351	hsa-miR-570	CLIP-seq
MIRT764892	hsa-miR-876-3p	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764858	hsa-miR-1246	CLIP-seq
MIRT764859	hsa-miR-128	CLIP-seq
MIRT764860	hsa-miR-1293	CLIP-seq
MIRT2166845	hsa-miR-130a	CLIP-seq
MIRT2166846	hsa-miR-130b	CLIP-seq
MIRT2166847	hsa-miR-155	CLIP-seq
MIRT2166848	hsa-miR-186	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT764864	hsa-miR-27a	CLIP-seq
MIRT764865	hsa-miR-27b	CLIP-seq
MIRT764866	hsa-miR-2964a-5p	CLIP-seq
MIRT2166849	hsa-miR-301a	CLIP-seq
MIRT2166850	hsa-miR-301b	CLIP-seq
MIRT764868	hsa-miR-3134	CLIP-seq
MIRT764871	hsa-miR-330-3p	CLIP-seq
MIRT1925345	hsa-miR-3611	CLIP-seq
MIRT764872	hsa-miR-365	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT2166851	hsa-miR-4252	CLIP-seq
MIRT764877	hsa-miR-4320	CLIP-seq
MIRT764878	hsa-miR-4419a	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764881	hsa-miR-4483	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764883	hsa-miR-4510	CLIP-seq
MIRT2166852	hsa-miR-454	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT764886	hsa-miR-4728-5p	CLIP-seq
MIRT764887	hsa-miR-513a-5p	CLIP-seq
MIRT1925349	hsa-miR-518a-5p	CLIP-seq
MIRT1925350	hsa-miR-527	CLIP-seq
MIRT764892	hsa-miR-876-3p	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT764873	hsa-miR-3652	CLIP-seq
MIRT764879	hsa-miR-4430	CLIP-seq
MIRT764882	hsa-miR-4505	CLIP-seq
MIRT764884	hsa-miR-4643	CLIP-seq
MIRT764885	hsa-miR-4717-3p	CLIP-seq
MIRT764851	hsa-miR-1237	CLIP-seq
MIRT764852	hsa-miR-1248	CLIP-seq
MIRT2469310	hsa-miR-1271	CLIP-seq
MIRT2166845	hsa-miR-130a	CLIP-seq
MIRT2166846	hsa-miR-130b	CLIP-seq
MIRT2469311	hsa-miR-132	CLIP-seq
MIRT2469312	hsa-miR-148a	CLIP-seq
MIRT2469313	hsa-miR-148b	CLIP-seq
MIRT2469314	hsa-miR-152	CLIP-seq
MIRT2469315	hsa-miR-182	CLIP-seq
MIRT2469316	hsa-miR-193a-5p	CLIP-seq
MIRT2469317	hsa-miR-194	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT2469318	hsa-miR-212	CLIP-seq
MIRT2166849	hsa-miR-301a	CLIP-seq
MIRT2166850	hsa-miR-301b	CLIP-seq
MIRT2469319	hsa-miR-31	CLIP-seq
MIRT2469320	hsa-miR-323-3p	CLIP-seq
MIRT2469321	hsa-miR-337-3p	CLIP-seq
MIRT2469322	hsa-miR-4259	CLIP-seq
MIRT2469323	hsa-miR-4282	CLIP-seq
MIRT2469324	hsa-miR-4452	CLIP-seq
MIRT2166852	hsa-miR-454	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT2469325	hsa-miR-4776-3p	CLIP-seq
MIRT764854	hsa-miR-549	CLIP-seq
MIRT2469326	hsa-miR-802	CLIP-seq
MIRT2469327	hsa-miR-96	CLIP-seq
MIRT764857	hsa-miR-1225-5p	CLIP-seq
MIRT2469310	hsa-miR-1271	CLIP-seq
MIRT2166845	hsa-miR-130a	CLIP-seq
MIRT2166846	hsa-miR-130b	CLIP-seq
MIRT2469311	hsa-miR-132	CLIP-seq
MIRT2469312	hsa-miR-148a	CLIP-seq
MIRT2469313	hsa-miR-148b	CLIP-seq
MIRT2469314	hsa-miR-152	CLIP-seq
MIRT2469315	hsa-miR-182	CLIP-seq
MIRT2469316	hsa-miR-193a-5p	CLIP-seq
MIRT2469317	hsa-miR-194	CLIP-seq
MIRT764862	hsa-miR-2052	CLIP-seq
MIRT2469318	hsa-miR-212	CLIP-seq
MIRT2166849	hsa-miR-301a	CLIP-seq
MIRT2166850	hsa-miR-301b	CLIP-seq
MIRT2469319	hsa-miR-31	CLIP-seq
MIRT2469320	hsa-miR-323-3p	CLIP-seq
MIRT2469321	hsa-miR-337-3p	CLIP-seq
MIRT2674356	hsa-miR-346	CLIP-seq
MIRT2469322	hsa-miR-4259	CLIP-seq
MIRT2469323	hsa-miR-4282	CLIP-seq
MIRT764876	hsa-miR-4312	CLIP-seq
MIRT2469324	hsa-miR-4452	CLIP-seq
MIRT2166852	hsa-miR-454	CLIP-seq
MIRT764853	hsa-miR-4762-5p	CLIP-seq
MIRT2469325	hsa-miR-4776-3p	CLIP-seq
MIRT1925349	hsa-miR-518a-5p	CLIP-seq
MIRT1925350	hsa-miR-527	CLIP-seq
MIRT764854	hsa-miR-549	CLIP-seq
MIRT2469326	hsa-miR-802	CLIP-seq
MIRT2469327	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IMP	9884026
GO:0001525	Process	Angiogenesis	IBA	21873635
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001702	Process	Gastrulation with mouth forming second	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0002526	Process	Acute inflammatory response	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	IMP	19506109
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003181	Process	Atrioventricular valve morphogenesis	ISS
GO:0003183	Process	Mitral valve morphogenesis	IMP	19506109
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003274	Process	Endocardial cushion fusion	ISS
GO:0003289	Process	Atrial septum primum morphogenesis	IMP	19506109
GO:0003289	Process	Atrial septum primum morphogenesis	ISS
GO:0004672	Function	Protein kinase activity	IDA	19736306
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12065756
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	NAS	8242742
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IBA	21873635
GO:0005515	Function	Protein binding	IPI	8242742, 8555189, 11266516, 18436533
GO:0005524	Function	ATP binding	IDA	12065756
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	8242742
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0006468	Process	Protein phosphorylation	IDA	12065756, 19506109
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA	21873635
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	8242742
GO:0007281	Process	Germ cell development	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IBA	21873635
GO:0009953	Process	Dorsal/ventral pattern formation	IBA	21873635
GO:0009968	Process	Negative regulation of signal transduction	IMP	9884026
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	19506109
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	ISS
GO:0016361	Function	Activin receptor activity, type I	IDA	8242742
GO:0017046	Function	Peptide hormone binding	NAS	12702211
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	19736306
GO:0030278	Process	Regulation of ossification	IMP	16642017
GO:0030335	Process	Positive regulation of cell migration	IGI	19736306
GO:0030501	Process	Positive regulation of bone mineralization	IMP	18436533
GO:0030509	Process	BMP signaling pathway	IBA	21873635
GO:0030509	Process	BMP signaling pathway	IDA	18436533
GO:0032924	Process	Activin receptor signaling pathway	IDA	19506109
GO:0032924	Process	Activin receptor signaling pathway	IMP	18326817
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IMP	9884026
GO:0042803	Function	Protein homodimerization activity	IDA	18436533
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0045177	Component	Apical part of cell	IEA
GO:0045296	Function	Cadherin binding	IPI	26598555
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	18436533
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	8242742
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19506109
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18326817
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046332	Function	SMAD binding	IBA	21873635
GO:0046332	Function	SMAD binding	IDA	12065756
GO:0046872	Function	Metal ion binding	IEA
GO:0048179	Component	Activin receptor complex	IDA	8242742
GO:0048185	Function	Activin binding	IDA	8242742
GO:0050431	Function	Transforming growth factor beta binding	IDA	8242742
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IMP	26598555
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060389	Process	Pathway-restricted SMAD protein phosphorylation	IDA	19736306
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060923	Process	Cardiac muscle cell fate commitment	IMP	19506109
GO:0061312	Process	BMP signaling pathway involved in heart development	ISS
GO:0061445	Process	Endocardial cushion cell fate commitment	IMP	19506109
GO:0070724	Component	BMP receptor complex	IBA	21873635
GO:0071363	Process	Cellular response to growth factor stimulus	IBA	21873635
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:1905007	Process	Positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:1990782	Function	Protein tyrosine kinase binding	IPI	26598555
GO:2000017	Process	Positive regulation of determination of dorsal identity	IDA	19506109
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IMP	9884026

Other IDs

• MIM: 102576
• HGNC: 171
• e!Ensembl: ENSG00000115170

Protein

• UniProt ID: Q04771
• Protein name: Activin receptor type-1 (EC 2.7.11.30) (Activin receptor type I) (ACTR-I) (Activin receptor-like kinase 2) (ALK-2) (Serine/threonine-protein kinase receptor R1) (SKR1) (TGF-B superfamily receptor type I) (TSR-I)
• Protein function: Bone morphogenetic protein (BMP) type I receptor that is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation (PubMed:20628059, PubMed:22977237). As a t
• PDB: 3H9R, 3MTF, 3OOM, 3Q4U, 4BGG, 4C02, 4DYM, 5OXG, 5OY6, 5S75, 5S76, 5S77, 5S78, 5S79, 5S7A, 5S7B, 5S7C, 5S7D, 5S7E, 5S7F, 5S7G, 5S7H, 5S7I, 5S7J, 5S7K, 5S7L, 5S7M, 5S7N, 5S7O, 5S7P, 5S7Q, 5S7R, 5S7S, 5S7T, 5S7U, 5S7V, 5S7W, 5S7X, 5S7Y, 5S7Z, 5S80, 5S81, 5S82, 5S83, 5S84, 5S85, 5S86, 5S87, 5S88, 5S89, 5S8A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01064	Activin_recp	33 → 103	Activin types I and II receptor domain	Domain
  PF08515	TGF_beta_GS	179 → 206	Transforming growth factor beta type I GS-motif	Family
  PF07714	PK_Tyr_Ser-Thr	208 → 495	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSIN
  DGFHVYQKGCFQVYEQGKMTCKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNF
  HLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPRDVEYGTIEGLITTNVGDSTL
  ADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
  DEKSWFRETELYNTVMLRHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTL
  DTVSCLRIVLSIASGLAHLHIEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVM
  HSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYKRVDIWAFGLVLWEVARRMVS
  NGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
  NPSARLTALRIKKTLTKIDNSLDKLKTDC

• Sequence length: 509

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Hormone signaling
TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells
Fluid shear stress and atherosclerosis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Iron-Refractory Iron Deficiency 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	28476747
Astrocytoma	Astrocytoma, Subependymal Giant Cell Astrocytoma, Juvenile Pilocytic Astrocytoma, Diffuse Astrocytoma, Pilocytic Astrocytoma, Childhood Cerebral Astrocytoma, Cerebral Astrocytoma	rs555607708	24705250
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	23180569
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	23180569
Connective tissue disease	Connective Tissue Diseases	rs5742905, rs80338688, rs80356506, rs104894800, rs104894948, rs28931614, rs121913482, rs28933068, rs121913483, rs137854464, rs121912870, rs387906980, rs587777352, rs527236145, rs189754995, rs730880214, rs794728188, rs863223852, rs745672741, rs763514968, rs1064793914, rs1085307608, rs1131691804, rs1555399144, rs1554787779, rs1555167139, rs1939205327
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	26619011
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Glioma	Glioma, mixed gliomas, Malignant Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	24705254, 24705252, 24705251, 24705252, 24705251, 24705254
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	23180569
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050
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
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	19085907, 8758048, 16642017, 26436010
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Anaplastic astrocytoma	Anaplastic astrocytoma		24705250
Brain stem glioma	Brain Stem Glioma		26619011
Mammary neoplasms	Mammary Neoplasms, Human, Mammary Neoplasms		23180569
Camptodactyly of fingers	Clinodactyly of the 5th finger
Fibrillary astrocytoma	Fibrillary Astrocytoma		24705250
Fibrodysplasia ossificans progressiva	Fibrodysplasia Ossificans Progressiva		18830232, 19085907, 19330033, 23011467, 16642017, 22977237
Gemistocytic astrocytoma	Gemistocytic astrocytoma		24705250
Grade i astrocytoma	Grade I Astrocytoma		24705250
Hamartoma	Hamartoma	rs140172891, rs143083812, rs34545616, rs587778688, rs2228617
Intracranial astrocytoma	Intracranial Astrocytoma		24705250
Myositis ossificans	Myositis Ossificans
Oligoastrocytoma	Mixed oligoastrocytoma		24705250
Osseous ankylosis	Osseous ankylosis
Protoplasmic astrocytoma	Protoplasmic astrocytoma		24705250
Respiratory failure	Respiratory Failure