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
RS1896432430 WDR73 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Galloway-Mowat syndrome 1
RS189646143 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS1896497587 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS189650890 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Lymphoma
RS189652973 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Inborn genetic diseases
RS189654215 WHRN Health Risk Conflicting classifications of pathogenicity —
RS189656371 SPTB Health Risk Conflicting classifications of pathogenicity —
RS1896573269 ACAN Health Risk Likely pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS189660852 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, See cases
RS1896650174 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1896650229 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1896651230 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS1896651394 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS189669693 PPM1D Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS1896706358 BLM Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1896712163 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1896712920 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1896717353 RAD51 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1896720549 ACAN Health Risk Pathogenic —
RS1896724611 WDR73 Health Risk Likely pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS189674303 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS189676187 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1896771746 ACAN Health Risk Likely pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS1896779736 ACAN Health Risk Likely pathogenic —
RS189678019 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1896842918 CEP152 Health Risk Conflicting classifications of pathogenicity —
RS1896876172 ACAN Health Risk Likely pathogenic Spondyloepiphyseal dysplasia, Kimberley type
RS1896876299 ACAN Health Risk Likely pathogenic See cases, See cases
RS1896882552 ACAN Health Risk Pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS1896883106 ACAN Health Risk Pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS189694750 SHROOM4 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Stocco dos Santos type
RS1896970434 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS1896974524 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1896976755 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS189698814 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1897010482 ACAN Health Risk Pathogenic —
RS189701174 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS1897040319 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1897046798 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1897080948 ACAN Health Risk Pathogenic Osteochondritis dissecans, Osteochondritis dissecans
RS1897097454 ACAN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1897102163 ACAN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1897109421 CEP152 Health Risk Pathogenic —
RS1897137506 ACAN Health Risk Pathogenic —
RS1897141948 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS189717232 GFPT1 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome
RS189718498 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS189719120 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1897212605 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1897213953 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1897222054 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS189723011 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1897233241 BLM Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1897234496 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1897236255 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS1897238597 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1897239335 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1897239414 BLM Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Bloom syndrome
RS189725849 ACTC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS1897274437 CEP152 Health Risk Pathogenic —
RS189728415 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS189729452 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, USH2A-related disorder
RS189730787 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS189731792 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS189734472 KIF11 Health Risk Conflicting classifications of pathogenicity —
RS1897349804 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1897350204 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS189735385 SEC24D Health Risk Conflicting classifications of pathogenicity —
RS1897359016 CEP152 Health Risk Likely pathogenic Seckel syndrome 5, Seckel syndrome 5
RS189736697 GCGR Health Risk Conflicting classifications of pathogenicity —
RS189738566 OTULIN Health Risk Conflicting classifications of pathogenicity Autoinflammation, panniculitis
RS189738689 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189746511 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS189748047 USH2A Health Risk Conflicting classifications of pathogenicity —
RS189751539 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Medulloblastoma non-WNT/non-SHH group 4
RS1897529855 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1897532698 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS189754659 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS189754995 COL9A1 Health Risk Pathogenic Stickler syndrome, type 4
RS189755961 NBEA Health Risk Conflicting classifications of pathogenicity NBEA-related disorder, Clear cell carcinoma of kidney
RS189758577 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS189759440 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS189762594 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1897632485 RXYLT1 Health Risk Likely pathogenic —
RS189763324 SAG Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa
RS1897635500 RXYLT1 Health Risk Pathogenic —
RS1897640752 RXYLT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS189765261 RNF213 Health Risk Conflicting classifications of pathogenicity Moyamoya disease 2, Moyamoya disease 2
RS1897670068 RXYLT1 Health Risk Pathogenic —
RS189768576 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder
RS1897691775 OTOA Health Risk Pathogenic Monogenic hearing loss, Monogenic hearing loss
RS189771133 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS189772244 DNHD1 Health Risk Conflicting classifications of pathogenicity —
RS189772397 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS189772599 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Cardiovascular phenotype
RS1897771129 IFT81 Health Risk Pathogenic —
RS189781480 VCL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS189785975 FLNB Health Risk Conflicting classifications of pathogenicity —
RS189786599 ASXL3 Health Risk Conflicting classifications of pathogenicity ASXL3-related disorder, ASXL3-related disorder
RS1897874329 PSEN1 Health Risk Pathogenic Frontotemporal dementia, Frontotemporal dementia
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