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
RS1970680774 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1970682343 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1970693382 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1970694961 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1970695925 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1970696255 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1970707032 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1970710230 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1970718775 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1970719648 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1970719986 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1970720537 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1970722328 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1970723970 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1970727401 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1970739259 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Nephronophthisis 8
RS1970754416 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1970760757 PARN Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1970762402 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1970771582 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1970772602 CHD3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1970777169 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS1970827483 TTC19 Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS1970827663 TTC19 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS1970877175 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, CHD3-related disorder
RS1970899870 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1970900298 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1970916901 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1970938126 CC2D1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 3
RS1970945661 GRIN2D Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 46
RS1970995171 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1971019633 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1971033478 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS1971042698 PARN Health Risk Pathogenic Pulmonary fibrosis, Pulmonary fibrosis
RS1971048225 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS1971179018 ANGPTL4 Health Risk Conflicting classifications of pathogenicity —
RS1971195837 CHD3 Health Risk Pathogenic/Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS1971272346 CC2D1A Health Risk Pathogenic —
RS1971301248 FARSA Health Risk Pathogenic Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2
RS1971301411 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS1971304017 GRIN2D Health Risk Likely pathogenic —
RS1971304148 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1971306200 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1971317826 CC2D1A Health Risk Pathogenic —
RS1971332505 GRIN2D Health Risk Conflicting classifications of pathogenicity —
RS1971341588 GRIN2D Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 46
RS1971361795 PARN Health Risk Likely pathogenic Pulmonary fibrosis, Familial Interstitial Pneumonia
RS1971372172 ADGRL1 Health Risk Likely pathogenic Developmental delay, behavioral abnormalities
RS1971392241 CC2D1A Health Risk Likely pathogenic Intellectual disability, autosomal recessive 3
RS1971411875 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1971438573 CYLD Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
RS1971445448 CYLD Health Risk Pathogenic Familial cylindromatosis, Familial cylindromatosis
RS1971446149 CYP4F22 Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS1971446308 RAB11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1971486578 CC2D1A Health Risk Pathogenic —
RS1971495978 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS1971498371 RELB Health Risk Likely pathogenic —
RS1971528310 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1971543762 CYLD Health Risk Likely pathogenic CYLD-related disorder, CYLD-related disorder
RS1971554136 CYP4F22 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS1971574442 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1971575594 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS1971589003 RELB Health Risk Conflicting classifications of pathogenicity Immunodeficiency 53, Immunodeficiency 53
RS1971589827 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1971610561 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1971618196 COL4A4 Health Risk Pathogenic Hematuria, Hematuria
RS1971662595 CC2D1A Health Risk Likely pathogenic Colon adenocarcinoma, Colon adenocarcinoma
RS1971718959 CC2D1A Health Risk Likely pathogenic —
RS1971785665 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS1971791380 LMNB2 Health Risk Pathogenic Microcephaly 27, primary
RS1971792460 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1971796422 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1971820160 KIAA0753 Health Risk Pathogenic —
RS1971844830 ERCC2 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1971844960 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
RS1971847513 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1971848454 ERCC2 Health Risk Pathogenic —
RS1971848694 ERCC2 Health Risk Likely pathogenic —
RS1971857332 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum
RS1971888879 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1971889059 ERCC2 Health Risk Pathogenic —
RS1971892935 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1971893048 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1971910520 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1971989621 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum
RS1972046041 ERCC2 Health Risk Pathogenic —
RS1972066901 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1972079641 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1972096108 LMNB2 Health Risk Pathogenic Microcephaly 27, primary
RS1972184295 C19orf12 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4
RS1972233022 GCSH Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1972245042 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1972246084 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1972310214 ERCC2 Health Risk Pathogenic —
RS1972311901 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1972331964 ERCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1972413438 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1972523297 WDR62 Health Risk Pathogenic —
RS1972523679 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS1972596669 VPS35L Health Risk Pathogenic Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3
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