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
RS1412883921 RDX Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS141288548 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS1412892301 F8 Health Risk Likely pathogenic F8-related disorder, F8-related disorder
RS1412895796 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS1412910699 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS1412913967 FBXO11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1412914051 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS141291583 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, XDH-related disorder
RS141292792 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS141292909 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS141293060 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS141293178 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS141293401 GIPC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1412940366 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS141294063 SLC17A8 Health Risk Conflicting classifications of pathogenicity —
RS141295085 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS141295561 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS141295770 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1412967226 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1412973951 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS141297873 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS141298287 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS141298709 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS141298868 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS141299250 HCRTR2 Health Risk Conflicting classifications of pathogenicity HCRTR2-related disorder, HCRTR2-related disorder
RS1413000730 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS141300510 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS141301073 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Polycystic liver disease 1
RS1413017181 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1B, Oculocutaneous albinism type 1A
RS141301945 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS141302945 CTNND2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141303335 COQ4 Health Risk Likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS141303532 FLCN Health Risk Conflicting classifications of pathogenicity FLCN-related disorder, FLCN-related disorder
RS141304350 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinitis pigmentosa
RS141304474 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS141304487 CDAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Anemia
RS141304623 HNF1A Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Maturity-onset diabetes of the young
RS141305257 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1413052728 FRMD7 Health Risk Likely pathogenic —
RS141305290 INPPL1 Health Risk Conflicting classifications of pathogenicity INPPL1-related disorder, Inborn genetic diseases
RS141305506 OPN1SW Health Risk Conflicting classifications of pathogenicity Blue color blindness, Blue color blindness
RS1413055215 SLC30A7 Health Risk Likely pathogenic Ziegler-Huang syndrome, Decreased testicular size
RS141305721 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS1413063599 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1413065373 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS141306917 TG Health Risk Pathogenic Autoimmune thyroid disease, susceptibility to
RS141307064 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1413085360 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1413085852 PNKP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS141308774 RAC2 Health Risk Conflicting classifications of pathogenicity Neutrophil immunodeficiency syndrome, Inborn genetic diseases
RS1413091136 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS141309351 POMC Health Risk Conflicting classifications of pathogenicity Obesity due to pro-opiomelanocortin deficiency, Inherited obesity
RS141309818 ABCC6 Health Risk Conflicting classifications of pathogenicity —
RS141310259 RASA2 Health Risk Conflicting classifications of pathogenicity —
RS141310425 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS141311765 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1413121429 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS141312224 UROD Health Risk Conflicting classifications of pathogenicity —
RS141314418 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS141314684 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 2
RS141314828 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Inborn genetic diseases
RS141315518 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS141315681 PDE4DIP Health Risk Likely pathogenic See cases, See cases
RS141315771 TWNK Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Perrault syndrome
RS141315921 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS141316327 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS1413163992 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1413169361 LFNG Health Risk Likely pathogenic Spondylocostal dysostosis 3, autosomal recessive
RS141317462 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS1413175771 ABCA3 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS1413177521 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1413181007 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS141318501 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS141318533 FSIP2 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 34, FSIP2-related disorder
RS1413186293 RAD51C Health Risk Pathogenic Breast-ovarian cancer, familial
RS1413197098 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS141319759 CUBN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Imerslund-Grasbeck syndrome type 1
RS141319800 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS141321114 CENPE Health Risk Conflicting classifications of pathogenicity —
RS141321409 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS1413214135 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS141321678 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Atypical hemolytic-uremic syndrome
RS1413222465 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1413238389 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS141324034 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS141324048 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, HMCN1-related disorder
RS1413243663 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1413244355 FASLG Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Lung cancer
RS141324814 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS141324828 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1413259742 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1413266657 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1413274209 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS141327514 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS141327522 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS141328044 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS141328606 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS1413289687 CPAP Health Risk Pathogenic —
RS141329633 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS141330687 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
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