SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1253072668 MYT1L Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 39
RS1253114701 TSPEAR Health Risk Pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS1253117981 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1253123816 NF1 Health Risk Likely pathogenic —
RS1253128772 SMARCD1 Health Risk Likely pathogenic Alopecia, androgenetic
RS1253151209 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1253152691 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1253153154 KIF7 Health Risk Pathogenic/Likely pathogenic Acrocallosal syndrome, Hydrolethalus syndrome 2
RS1253161767 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1253171024 MYL4 Health Risk Likely pathogenic Atrial fibrillation, familial
RS1253171657 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Cowden syndrome
RS1253188873 IFT140 Health Risk Pathogenic IFT140-related disorder, Renal cyst
RS1253211384 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1253227059 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1253246966 ZNF292 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 64
RS1253275403 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1253284091 ABCC8 Health Risk Conflicting classifications of pathogenicity —
RS1253286238 RBP3 Health Risk Pathogenic —
RS1253289234 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1253289854 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1253293795 PCARE Health Risk Pathogenic —
RS1253324101 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1253347170 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1253353417 RARS2 Health Risk Likely pathogenic —
RS1253383921 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1253403779 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1253404236 POLG2 Health Risk Pathogenic —
RS1253419936 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS1253447533 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS1253458479 HPS5 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 5
RS1253470807 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1253481641 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS1253496792 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1253499013 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1253502123 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS1253505269 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1253517114 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS1253531908 TWNK Health Risk Pathogenic Third degree atrioventricular block, Third degree atrioventricular block
RS1253558458 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS1253568005 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1253568733 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1253582681 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1253596843 USH2A Health Risk Pathogenic —
RS1253611243 IMPG2 Health Risk Likely pathogenic —
RS1253612362 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1253622274 ILK Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS1253630975 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1253680250 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1253689023 NEK10 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS1253708943 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1253749894 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS12537531 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1253756196 CERS1 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8
RS1253789424 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS1253790930 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 28, Retinal dystrophy
RS1253799389 MCFD2 Health Risk Pathogenic Factor 5 and Factor VIII, combined deficiency of
RS1253807820 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1253817401 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1253822191 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS1253866874 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1253870232 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1253878709 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS1253882360 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1253904315 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1253918930 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS1253923818 OPHN1 Health Risk Pathogenic —
RS1253927514 DNAJC3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1253942262 ARSG Health Risk Pathogenic Usher syndrome, type 4
RS1253943370 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1253945933 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1253951128 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1253964609 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Actin accumulation myopathy
RS1253978998 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS1253988919 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1253993053 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency
RS1253995342 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1253995767 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS1254002019 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1254008304 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1254014649 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS1254024310 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1254052531 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1254059410 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1254063262 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type 1C
RS1254094658 PACS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 66
RS1254096311 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS1254101861 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1254121532 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome
RS1254126085 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1254126467 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1254158201 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS1254164861 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS1254176854 APC Health Risk Pathogenic/Likely pathogenic Carcinoma of colon, Familial adenomatous polyposis 1
RS1254191370 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1254210696 ERCC2 Health Risk Likely pathogenic —
RS1254257945 PROC Health Risk Likely pathogenic Reduced protein C activity, Reduced protein C activity
RS1254261817 WFS1 Health Risk Pathogenic —
RS1254264958 GREB1L Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS1254271466 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1254300059 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
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