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
RS1765173859 GABRG2 Health Risk Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1765174711 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS1765175867 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1765180391 SAR1B Health Risk Pathogenic Inborn genetic diseases, Chylomicron retention disease
RS1765186475 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1765191304 H4C5 Health Risk Likely pathogenic Tessadori-Van Haaften neurodevelopmental syndrome 3, Tessadori-Van Haaften neurodevelopmental syndrome 3
RS1765197280 ADGRV1 Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1765200218 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765204324 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765221562 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1765224487 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765237683 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1765238670 APC Health Risk Pathogenic —
RS1765254720 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765255282 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765256327 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765259490 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765265441 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1765271867 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765298309 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765316968 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765326033 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765350227 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765353894 ADGRV1 Health Risk Pathogenic —
RS1765356292 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765363480 ADGRV1 Health Risk Pathogenic —
RS1765366028 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765368437 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765368708 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765403726 NSD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1765404132 APC Health Risk Pathogenic —
RS1765409926 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765424969 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765433827 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765452304 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1765456344 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765458794 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765476401 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765488318 TREM2 Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1765495276 APC Health Risk Pathogenic Desmoid disease, hereditary
RS1765511794 APC Health Risk Pathogenic Colorectal cancer, Familial adenomatous polyposis 1
RS1765533502 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765534642 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765536013 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765536690 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765537897 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765543308 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS1765561142 KCNQ5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 46
RS1765564648 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Neoplasm
RS1765576393 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765583281 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765584708 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765602287 RAB23 Health Risk Pathogenic Carpenter syndrome, Carpenter syndrome
RS1765608519 RAB23 Health Risk Pathogenic Carpenter syndrome, Carpenter syndrome
RS1765615038 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1765615722 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765618844 NSD1 Health Risk Pathogenic —
RS1765620003 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1765620358 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765630072 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1765648528 RPS10 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1765655722 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765664365 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1765672840 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765673686 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765677069 APC Health Risk Pathogenic —
RS1765687695 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765705285 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765711003 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1765712615 NSD1 Health Risk Pathogenic —
RS1765713589 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1765716533 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765721326 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765726534 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1765727233 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1765728504 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1765732008 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765738668 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS1765745643 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765760073 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765800063 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765802748 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1765814665 MEGF10 Health Risk Pathogenic —
RS1765838341 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1765845000 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1765870542 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1765881602 COL12A1 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1765892950 RPS10 Health Risk Likely pathogenic —
RS1765909318 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1765909471 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1765909899 CAST Health Risk Likely pathogenic CAST-related disorder, CAST-related disorder
RS1765917272 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1765954963 COL12A1 Health Risk Likely pathogenic —
RS1765988972 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1766002955 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1766006410 EYS Health Risk Pathogenic —
RS1766006937 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1766009155 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1766009662 EYS Health Risk Pathogenic —
RS1766011028 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
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