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
RS145828292 UQCRB Health Risk Conflicting classifications of pathogenicity —
RS1458285200 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS145829300 RAB3GAP1 Health Risk Pathogenic/Likely pathogenic —
RS1458295257 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1458297643 EARS2 Health Risk Pathogenic —
RS145830034 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1458306248 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS145830873 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS1458311779 SPEN Health Risk Pathogenic —
RS145831200 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS145831682 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1458321358 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS145832242 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS145832414 APOB Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS1458326422 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS145832674 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RTTN-related disorder
RS145833100 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Intellectual disability
RS1458332751 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS145835282 TFG Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy, Okinawa type
RS145835705 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Inborn genetic diseases
RS145835916 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS145836229 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS1458368988 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS145838099 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS145838142 HMGCS2 Health Risk Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS145838277 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS145839490 PORCN Health Risk Conflicting classifications of pathogenicity PORCN-related disorder, Inborn genetic diseases
RS1458411946 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS145841521 GANAB Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases
RS145841558 AP3B2 Health Risk Conflicting classifications of pathogenicity —
RS145842163 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Muscular dystrophy
RS1458422311 SFTPC Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS1458423947 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 3
RS1458424462 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS145842629 CILK1 Health Risk Conflicting classifications of pathogenicity CILK1-related disorder, CILK1-related disorder
RS1458430039 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS145843073 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Lennox-Gastaut syndrome
RS1458430820 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS145843390 WARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1458435036 WHRN Health Risk Likely pathogenic —
RS145843634 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1458437821 COQ2 Health Risk Pathogenic —
RS145843819 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1458440347 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1458440922 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, CYP17A1-related disorder
RS145844294 TRIM28 Health Risk Conflicting classifications of pathogenicity —
RS145844320 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Hyper-IgE recurrent infection syndrome 3
RS145844329 GPIHBP1 Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type 1D
RS145845197 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS1458456081 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1458458354 UPB1 Health Risk Likely pathogenic —
RS145846228 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS145847043 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS145847114 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Hypertrophic cardiomyopathy
RS145847315 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145847749 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS145847992 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Ovarian serous cystadenocarcinoma
RS145848988 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS1458492476 CD55 Health Risk Likely pathogenic CD55-related disorder, CD55-related disorder
RS1458494785 NPHP1 Health Risk Pathogenic Nephronophthisis, NPHP1-related disorder
RS145849608 FLNB Health Risk Conflicting classifications of pathogenicity —
RS145849611 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS145849861 CERS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145849970 COL6A1 Health Risk Pathogenic Collagen 6-related myopathy, Bethlem myopathy 1A
RS1458502601 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS145850612 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS145851144 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1
RS145851520 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Fanconi anemia complementation group Q
RS145851551 CDH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145851568 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS145851613 LRRC51;LRTOMT Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 63, LRTOMT-related disorder
RS145851627 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS1458516705 PKD1 Health Risk Likely pathogenic PKD1-related disorder, Polycystic kidney disease
RS145851783 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS145851939 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS1458526051 MYO15A Health Risk Likely pathogenic —
RS1458537119 DNAH9 Health Risk Pathogenic —
RS145854903 FXN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Inborn genetic diseases
RS145855459 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1458557680 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1458560992 MYO5B Health Risk Pathogenic —
RS145856327 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS145856805 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS145857508 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1458580158 LRPPRC Health Risk Pathogenic —
RS145858131 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS145859060 AARS1 Health Risk Pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS145859308 ENO3 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS145859791 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS145861016 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1458612288 TSFM Health Risk Pathogenic/Likely pathogenic —
RS1458613529 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS145861489 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL4A1-related disorder
RS1458616144 ACAN Health Risk Pathogenic —
RS145862018 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS145862664 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS145862992 TNK2 Health Risk Conflicting classifications of pathogenicity —
RS145863180 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS1458634194 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145864790 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
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