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
RS765753641 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS765754956 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS765755261 PLAA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765756226 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS765756292 NSUN2 Health Risk Pathogenic —
RS765756665 TPRN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
RS765756715 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765757800 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS765758197 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS765758808 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS765759269 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS765759912 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS76576170 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS765762255 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS765763103 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis
RS765763663 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS765763704 ECE1 Health Risk Likely pathogenic Aganglionic megacolon, Aganglionic megacolon
RS765763906 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma
RS765764090 DNAJB11 Health Risk Pathogenic Inborn genetic diseases, Polycystic kidney disease 6 with or without polycystic liver disease
RS765764128 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS765766340 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS765766600 SLC34A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypercalcemia
RS76576806 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
RS765768857 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS765769174 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS765769406 PPM1D Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Familial cancer of breast
RS765769761 ABCA4 Health Risk Likely pathogenic —
RS765769901 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS765770406 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Syndromic intellectual disability
RS765771203 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS765771535 IARS1 Health Risk Pathogenic Growth retardation, intellectual developmental disorder
RS765772636 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS765773988 ZMYND11 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 30
RS765775292 NDUFA10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex I deficiency
RS765776651 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS765777284 FGF12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765777463 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS765777664 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS765778415 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS765778616 MME Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS765779011 ABCC2 Health Risk Pathogenic —
RS765779905 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS765781871 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS765782024 BCL11B Health Risk Conflicting classifications of pathogenicity —
RS765782274 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS765782802 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS765783970 CEP63 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765784096 SH3PXD2B Health Risk Likely pathogenic —
RS765784723 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
RS765785230 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS76578570 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS765786158 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS765786832 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS765787001 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, PHEX-related disorder
RS765787352 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS765788978 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS765789028 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS765789880 MYH14 Health Risk Conflicting classifications of pathogenicity MYH14-related disorder, MYH14-related disorder
RS765790706 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS765792042 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS765792098 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS765792753 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 49
RS765792997 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS765793195 RASA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Capillary malformation-arteriovenous malformation syndrome
RS765793260 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS765793568 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS765795867 COL2A1 Health Risk Pathogenic Absent vertebral body mineralization, Short ribs
RS765797284 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765797870 CACNA1S Health Risk Conflicting classifications of pathogenicity CACNA1S-related disorder, Hypokalemic periodic paralysis
RS765798583 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS765798920 SLC6A19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765798973 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765799472 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS765800403 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765802022 NEMF Health Risk Pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS765802331 CYP11B2 Health Risk Pathogenic Corticosterone methyl oxidase type II deficiency, Corticosterone methyl oxidase type II deficiency
RS765803171 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS765803190 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS765804881 PDE6B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS765804978 HFE Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, 6 conditions
RS765805502 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS765806782 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS765808018 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS765809606 CD36 Health Risk Pathogenic —
RS765810643 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS765811715 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS765812098 AGXT Health Risk Likely pathogenic —
RS765812583 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS765812659 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS765812835 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765813020 NARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765813825 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765815035 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS765815516 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS765815570 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS765815715 CDH4 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS765815936 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS765816079 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder
RS765816848 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS765817015 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
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