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
RS142299878 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS1423002555 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1423002835 CC2D1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 3
RS1423003209 RINT1 Health Risk Pathogenic RINT1-related disorder, RINT1-related disorder
RS142301132 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS142301194 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS142301715 SIX1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
RS142302070 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS142302101 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS142302291 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS142302585 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142303164 KRT71 Health Risk Conflicting classifications of pathogenicity KRT71-related disorder, KRT71-related disorder
RS142303658 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS142304137 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Syncope
RS1423043030 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, Inborn genetic diseases
RS142304943 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS142305374 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1423056320 CARD11 Health Risk Likely pathogenic BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS142306293 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS142306380 FSIP2 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 34, FSIP2-related disorder
RS142307145 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS142307403 COL8A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1423076539 TTN Health Risk Conflicting classifications of pathogenicity —
RS142308887 TG Health Risk Pathogenic/Likely pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS142309356 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS1423096639 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1423102192 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS142311664 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Familial restrictive cardiomyopathy
RS142311782 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS142312281 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS1423123313 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1423135750 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1423137705 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS142314036 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142314177 OAS1 Health Risk Conflicting classifications of pathogenicity Pulmonary alveolar proteinosis with hypogammaglobulinemia, Pulmonary alveolar proteinosis with hypogammaglobulinemia
RS1423143143 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder, Hereditary cancer-predisposing syndrome
RS1423156198 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS142316834 ELN Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 1
RS142317242 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS142317485 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS142318405 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS1423185138 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS142318791 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS1423192314 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS142319505 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1423199445 RNF168 Health Risk Pathogenic —
RS142319986 MAMLD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142320179 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS142320702 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS1423207026 SLC40A1 Health Risk Pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1423208260 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS142321451 HPD Health Risk Conflicting classifications of pathogenicity Tyrosinemia type III, Hawkinsinuria
RS142322202 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 4
RS142322668 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1423231619 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1423233510 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS142323631 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142323824 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1423247945 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS142325001 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
RS1423255138 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1423265088 LOXHD1 Health Risk Pathogenic —
RS142326926 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, AIPL1-related disorder
RS142326967 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS142327194 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1423274041 OTOF Health Risk Conflicting classifications of pathogenicity Auditory neuropathy, Autosomal recessive nonsyndromic hearing loss 9
RS142327602 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Inborn genetic diseases
RS1423279685 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS142328073 BRF1 Health Risk Conflicting classifications of pathogenicity —
RS142328549 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS142329098 SLC25A32 Health Risk Conflicting classifications of pathogenicity Exercise intolerance, riboflavin-responsive
RS1423291369 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS142330184 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1423306991 DEPDC5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial focal epilepsy with variable foci
RS142330967 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS142331907 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS142331975 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS142332207 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS142333075 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS142333442 ERCC3 Health Risk Conflicting classifications of pathogenicity —
RS142333661 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142334798 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS142335110 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS142335129 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, UNC13D-related disorder
RS142335339 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Amelogenesis imperfecta type 1
RS142335345 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Inborn genetic diseases
RS142335537 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1423359801 COL9A3 Health Risk Pathogenic COL9A3-related disorder, COL9A3-related disorder
RS142336618 GMPPB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS142336788 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS142338243 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142338762 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS142338976 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS142339349 EHHADH Health Risk Conflicting classifications of pathogenicity Fanconi renotubular syndrome 3, EHHADH-related disorder
RS142339356 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142339453 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Inborn genetic diseases
RS1423398589 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1423399664 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS142340833 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142341124 VPS13C Health Risk Conflicting classifications of pathogenicity —
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