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
RS150230201 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS150230845 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS150231219 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS150231327 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS150232843 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Retinal dystrophy
RS150233337 TBX4 Health Risk Pathogenic Pulmonary hypertension, primary
RS150233690 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions
RS150233736 KLHL41 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 9, Inborn genetic diseases
RS150236371 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS150237160 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS150237416 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Connective tissue disorder
RS150238159 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150239235 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS150239404 CWF19L1 Health Risk Pathogenic —
RS150239870 DZIP1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150241349 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS150241539 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy
RS150242262 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS150242481 WNT4 Health Risk Conflicting classifications of pathogenicity Mullerian aplasia and hyperandrogenism, SERKAL syndrome
RS150242638 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150242757 FGG Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, FGG-related disorder
RS150243147 COQ8A Health Risk Conflicting classifications of pathogenicity COQ8A-related disorder, COQ8A-related disorder
RS150244426 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS150244667 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS150245906 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS150245955 GJB3 Health Risk Conflicting classifications of pathogenicity GJB3-related disorder, Inborn genetic diseases
RS150246251 IFT172 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS150246328 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder
RS150246404 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
RS150246870 SLC16A1 Health Risk Conflicting classifications of pathogenicity Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
RS150247275 BEST1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, BEST1-related disorder
RS150248483 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS150248865 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS150248985 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Inborn genetic diseases
RS150250100 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, OBSL1-related disorder
RS150250182 ILDR1 Health Risk Conflicting classifications of pathogenicity —
RS150250443 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS150252937 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS150253422 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS150254629 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS150254933 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS150255203 GBF1 Health Risk Conflicting classifications of pathogenicity —
RS150255709 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS150258541 SLC12A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bartter disease type 1
RS150259543 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS150260103 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Severe early-childhood-onset retinal dystrophy
RS150260489 RPE65 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS150260759 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS150260969 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS150261092 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 2A
RS150261456 DNAI1 Health Risk Conflicting classifications of pathogenicity Kartagener syndrome, Primary ciliary dyskinesia
RS150262490 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150262900 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS150263014 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS150263699 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS150264233 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Death in infancy
RS150266274 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-related disorder
RS150266349 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
RS150266354 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS150266932 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS150268130 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS150269540 TTC7A Health Risk Conflicting classifications of pathogenicity Common variable immunodeficiency, Multiple gastrointestinal atresias
RS150270086 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS150271870 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS150271893 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary cancer
RS150271983 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS150272167 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS150272676 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS150273659 SFTPA2 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, SFTPA2-related disorder
RS150273938 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150276786 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS150277124 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS150277901 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS150277911 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS150278938 NDUFS8 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS150279202 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, OPA1-related disorder
RS150279426 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS150279909 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS150280414 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Inborn genetic diseases
RS150280452 C5 Health Risk Conflicting classifications of pathogenicity —
RS150280500 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS150280940 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS150280970 LINS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150281463 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS150283105 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency
RS150283412 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS150284288 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS150284394 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS150284621 MSX1 Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS150284749 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Inborn genetic diseases
RS150284874 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS150285174 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS150285287 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS150285580 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS150285674 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS150286262 ARFGEF1 Health Risk Pathogenic DEVELOPMENTAL DELAY, IMPAIRED SPEECH
RS150286306 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Inborn genetic diseases
RS150286673 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS150287359 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS150288279 PRODH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Proline dehydrogenase deficiency
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