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
RS1828565145 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS1828572665 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1828591 HHIP Health Risk association Chronic obstructive pulmonary disease, biomass related
RS1828624396 RELN Health Risk Likely pathogenic Familial temporal lobe epilepsy 7, Familial temporal lobe epilepsy 7
RS1828636794 SYK Health Risk Pathogenic Joint swelling, Skin rash
RS1828651198 ELP1 Health Risk Pathogenic —
RS1828665576 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS182866658 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS1828669338 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS1828679645 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1828696455 GNE Health Risk Likely pathogenic Sialuria, GNE myopathy
RS1828703342 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1828715424 IARS1 Health Risk Pathogenic —
RS182871847 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1828721782 VCP Health Risk Likely pathogenic FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES
RS1828723159 ALG2 Health Risk Likely pathogenic Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14
RS1828723406 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1828729293 ALG2 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 14, ALG2-congenital disorder of glycosylation
RS1828729991 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS182873269 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1828741490 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1828745258 XPA Health Risk Pathogenic —
RS182875134 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, IL10RB-related disorder
RS1828756507 VCP Health Risk Conflicting classifications of pathogenicity Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS1828760353 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS1828783140 VCP Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1828784075 VCP Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1828785763 TMC1 Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1828800296 ELP1 Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Familial dysautonomia
RS1828806280 ALG2 Health Risk Likely pathogenic ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation
RS1828806340 ALG2 Health Risk Pathogenic Congenital myasthenic syndrome 14, Congenital myasthenic syndrome 14
RS1828818571 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1828864269 VCP Health Risk Likely pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
RS1828864557 TMC1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7
RS1828865320 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS1828866977 ELP1 Health Risk Pathogenic —
RS182887871 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS1828901917 COL27A1 Health Risk Likely pathogenic —
RS1828910974 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS1828914261 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1828921198 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1828923734 IFT74 Health Risk Pathogenic —
RS1828929851 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1828930645 GNE Health Risk Likely pathogenic GNE myopathy, Sialuria
RS182893847 PRKN Health Risk Conflicting classifications of pathogenicity —
RS182894280 ACAN Health Risk Conflicting classifications of pathogenicity —
RS1828949796 NANS Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS1828965654 TMC1 Health Risk Likely pathogenic Hearing loss, autosomal recessive
RS1829025291 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS1829026390 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS1829027066 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1829035889 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829040508 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829041127 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1829042768 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829045299 AGTPBP1 Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS1829054259 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1829054352 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1829055917 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829055945 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829056657 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829062032 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1829062071 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS1829064231 COL27A1 Health Risk Likely pathogenic Steel syndrome, Steel syndrome
RS1829065047 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1829066243 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829066424 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1829068323 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1829075705 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1829085768 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829086026 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1829091761 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1829091954 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829092043 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS1829092348 COL27A1 Health Risk Likely pathogenic —
RS1829092483 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1829096099 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1829096531 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1829103511 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1829103547 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1829104194 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1829123346 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1829128546 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829129603 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Pituitary stalk interruption syndrome
RS1829129696 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829130135 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS1829130643 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS182913453 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1829144030 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1829144428 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS1829145397 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia complementation group G
RS182914589 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS1829161980 COL27A1 Health Risk Likely pathogenic —
RS1829177357 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS1829181339 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS1829190548 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS182919150 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS182923857 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS1829252908 TJP2 Health Risk Likely pathogenic —
RS1829255885 TJP2 Health Risk Conflicting classifications of pathogenicity —
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