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
RS761219220 MYO15A Health Risk Pathogenic —
RS761220696 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS761221409 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS761221416 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS761221480 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS761221683 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS761222362 NOP10 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 1
RS761222472 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS761223583 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS761224042 SLC52A3 Health Risk Likely pathogenic —
RS761224660 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS761225576 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS761225695 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS761226001 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Hydrolethalus syndrome 2
RS761226381 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS761227259 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS761229102 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS761229118 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761229686 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS761229979 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS761230959 DARS1 Health Risk Likely pathogenic —
RS761231404 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Malignant tumor of breast
RS761231496 FCSK Health Risk Conflicting classifications of pathogenicity —
RS761231974 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS761232017 MYBPC1 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS761232139 ALDH3A1 Health Risk Likely pathogenic Keratoconus, Keratoconus
RS761232264 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761232641 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS761232961 GRM6 Health Risk Pathogenic —
RS761234904 COL7A1 Health Risk Pathogenic 7 conditions, Epidermolysis bullosa dystrophica inversa
RS761235042 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS761235464 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS761235679 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS761235755 DNAJC12 Health Risk Pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS761237429 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS761237701 CFAP74 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS761238421 CUL7 Health Risk Pathogenic —
RS761238651 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS761238771 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS761239255 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS761240106 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS761240520 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS761240717 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS761241049 ACAN Health Risk Pathogenic —
RS761241302 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS761241506 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 42
RS761241711 DSG1 Health Risk Likely pathogenic Hereditary palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis
RS761241799 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS761241914 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS761242509 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS761242621 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS761242807 GORAB Health Risk Pathogenic —
RS761242924 AAAS Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS761243379 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS761243391 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS761244757 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS761245318 LRP5 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4
RS761245375 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS761247503 CPLANE1 Health Risk Pathogenic —
RS761247671 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS761247695 IMPG1 Health Risk Pathogenic —
RS761248518 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS761249404 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS761249526 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS761251269 MERTK Health Risk Likely pathogenic —
RS761251711 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS76125290 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS761253411 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761253760 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS761253824 CEP250 Health Risk Likely pathogenic —
RS761254060 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS761255472 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS761256523 TMC8 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS761256648 SIM1 Health Risk Conflicting classifications of pathogenicity Obesity due to SIM1 deficiency, SIM1-related disorder
RS761256681 COL9A1 Health Risk Pathogenic —
RS761256819 OBSCN Health Risk Pathogenic —
RS761257154 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS761257178 KIAA0753 Health Risk Pathogenic —
RS761257231 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS761257703 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS761258579 HPS6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761259265 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS761259319 NDUFV1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS761259326 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS761259908 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS761260344 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS761261049 GJC2 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 3, Spastic paraplegia
RS761261211 ADAMTSL4 Health Risk Pathogenic —
RS761261855 TMC1 Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS761263852 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761266231 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS761267998 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS761268464 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS761268670 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS761268803 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS761269065 LAMA3 Health Risk Likely pathogenic —
RS761269554 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS761270194 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS761271604 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS761272308 TJP2 Health Risk Conflicting classifications of pathogenicity —
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