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
RS2497417047 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497417818 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497419319 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2497419394 OTOG Health Risk Likely pathogenic —
RS2497421036 VWF Health Risk Likely pathogenic —
RS2497421495 VWF Health Risk Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2497421894 HMBS Health Risk Pathogenic —
RS2497421927 HMBS Health Risk Likely pathogenic —
RS2497423187 STIM1 Health Risk Likely pathogenic Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates
RS2497425796 HMBS Health Risk Pathogenic —
RS2497426310 HMBS Health Risk Pathogenic —
RS2497427091 OTOG Health Risk Pathogenic —
RS2497432294 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS2497432698 HMBS Health Risk Pathogenic —
RS2497434558 VWF Health Risk Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2497436869 HMBS Health Risk Likely pathogenic —
RS2497437523 HMBS Health Risk Pathogenic —
RS2497439641 HMBS Health Risk Pathogenic —
RS2497440458 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2497444053 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497444581 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497445719 ETV6 Health Risk Likely pathogenic Malignant lymphoma, large B-cell
RS2497448284 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2497449184 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2497451715 HMBS Health Risk Pathogenic —
RS2497452054 HMBS Health Risk Pathogenic —
RS2497452998 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2497453440 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2497453463 VWF Health Risk Likely pathogenic —
RS2497455398 HEPACAM Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A
RS2497460931 VWF Health Risk Pathogenic —
RS2497463030 HEPACAM Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A
RS2497465356 HMBS Health Risk Pathogenic —
RS2497466492 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2497466564 HMBS Health Risk Pathogenic —
RS2497466869 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2497467469 HMBS Health Risk Pathogenic —
RS2497468901 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497470215 HEPACAM Health Risk Pathogenic —
RS2497470975 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497471018 GRIN2B Health Risk Likely pathogenic GRIN2B-related disorder, GRIN2B-related disorder
RS2497471386 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2497471442 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497471746 GRIN2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2497471781 GRIN2B Health Risk Likely pathogenic —
RS2497472277 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2497475225 HMBS Health Risk Pathogenic —
RS2497475280 HMBS Health Risk Pathogenic —
RS2497475506 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497475732 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS2497475889 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497476034 GRIN2B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 27
RS2497476072 GRIN2B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 27
RS2497476150 ALG9 Health Risk Likely pathogenic ALG9-related disorder, ALG9-associated autosomal dominant polycystic kidney disease
RS2497479294 HMBS Health Risk Pathogenic —
RS2497481899 GRIN2B Health Risk Pathogenic Developmental and epileptic encephalopathy, 27
RS2497482245 GRIN2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2497482289 GRIN2B Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2497482397 GRIN2B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 27
RS2497485773 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS2497486003 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS2497489266 MYO7A Health Risk Pathogenic —
RS2497489299 MYO7A Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497501143 DPAGT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
RS2497504527 OTOG Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2497505797 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS2497512202 MED17 Health Risk Pathogenic —
RS2497512303 MED17 Health Risk Pathogenic —
RS2497512441 MED17 Health Risk Likely pathogenic —
RS2497512444 MED17 Health Risk Likely pathogenic —
RS2497515136 VWF Health Risk Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS2497516107 OTOG Health Risk Pathogenic —
RS2497516912 VWF Health Risk Likely pathogenic VWF-related disorder, VWF-related disorder
RS2497517912 FLI1 Health Risk Pathogenic Bleeding disorder, platelet-type
RS2497522036 MED17 Health Risk Likely pathogenic —
RS2497522154 FERRY3 Health Risk Pathogenic Intellectual disability, autosomal recessive 66
RS2497522170 MED17 Health Risk Pathogenic —
RS2497522237 MED17 Health Risk Pathogenic —
RS2497522528 MED17 Health Risk Likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS2497527392 MED17 Health Risk Likely pathogenic —
RS2497527420 MED17 Health Risk Pathogenic —
RS2497527611 MED17 Health Risk Likely pathogenic —
RS2497527773 MED17 Health Risk Pathogenic —
RS2497528475 DPAGT1 Health Risk Likely pathogenic DPAGT1-congenital disorder of glycosylation, DPAGT1-congenital disorder of glycosylation
RS2497529042 VWF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2497529439 DPAGT1 Health Risk Pathogenic DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS2497530420 MED17 Health Risk Pathogenic —
RS2497531947 OTOG Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2497533462 MED17 Health Risk Pathogenic —
RS2497535795 VWF Health Risk Likely pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS2497536470 OTOG Health Risk Pathogenic —
RS2497538745 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS2497538753 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497539228 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497544328 MYO7A Health Risk Pathogenic —
RS2497544750 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497545192 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497546422 OTOG Health Risk Pathogenic —
RS2497547053 MYO7A Health Risk Likely pathogenic —
RS2497551789 MED17 Health Risk Pathogenic —
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