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
RS762989809 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS762989914 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS762990578 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS762990689 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS762991211 NRL Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Retinitis pigmentosa 27
RS762991620 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS762991875 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS762991925 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS762992496 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS762993384 CDK13 Health Risk Pathogenic —
RS762994535 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS76299711 ESR2 Health Risk Conflicting classifications of pathogenicity —
RS762998472 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Joubert syndrome
RS762998620 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS762999586 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS763000754 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS763001827 CEP63 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763002067 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS763003164 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS763003390 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS763004638 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS763004817 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP1-related disorder
RS763004980 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS763005068 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, EYA1-related disorder
RS763005471 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS763005838 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Wagner disease
RS763006208 NDUFA6 Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial complex I deficiency
RS763006562 LCT Health Risk Likely pathogenic Congenital lactase deficiency, Congenital lactase deficiency
RS763006761 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS763009188 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS763009552 PIGT Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS763010898 LRPAP1 Health Risk Pathogenic Myopia 23, autosomal recessive
RS763011032 RNASET2 Health Risk Conflicting classifications of pathogenicity Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS763012291 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS763012548 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS763014940 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS763015849 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS763016962 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS763017059 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS763017169 FGFR2 Health Risk Pathogenic —
RS763018049 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS763019569 SOX10 Health Risk Conflicting classifications of pathogenicity SOX10-related disorder, SOX10-related disorder
RS763019843 TP63 Health Risk Conflicting classifications of pathogenicity Ectrodactyly, ectodermal dysplasia
RS763020615 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS763022938 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS763023697 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS763023732 ITGB3 Health Risk Pathogenic —
RS763023951 NDUFAF5 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS763025365 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS763025405 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Ehlers-Danlos syndrome
RS763025766 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS763026372 C9 Health Risk Pathogenic —
RS76302654 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS763026647 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa
RS76302703 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS763027558 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS763027598 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS763027848 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS763028318 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS763028380 ABCC8 Health Risk Conflicting classifications of pathogenicity 12 conditions, Transitory neonatal diabetes mellitus
RS763028732 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS763028737 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS763029049 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypobetalipoproteinemia, Hypercholesterolemia
RS763029699 TTN Health Risk Conflicting classifications of pathogenicity —
RS763029749 CSF1R Health Risk Pathogenic —
RS763030591 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS763032094 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS763033824 GRIA3 Health Risk Conflicting classifications of pathogenicity —
RS763035246 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS763035556 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS763036328 COLQ Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS763036586 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS763036680 SLC12A1 Health Risk Conflicting classifications of pathogenicity —
RS763039181 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS763039506 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS763040081 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763040556 IYD Health Risk Conflicting classifications of pathogenicity Iodotyrosine deiodination defect, Iodotyrosine deiodination defect
RS763041373 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS763041846 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS763041955 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Migraine
RS763043084 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS763043311 LRP5 Health Risk Likely pathogenic —
RS763044573 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS763045532 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS763045676 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS763045710 POGLUT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763047420 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS763047621 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS763048583 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS763048743 PNLDC1 Health Risk Pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Spermatogenic failure 57
RS763048901 RTN4IP1 Health Risk Pathogenic/Likely pathogenic Optic atrophy 10 with or without ataxia, intellectual disability
RS763048948 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS763051683 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS763051801 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS763052360 GRHPR Health Risk Conflicting classifications of pathogenicity Nephrolithiasis/nephrocalcinosis, Nephrolithiasis/nephrocalcinosis
RS763052786 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS763053421 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS763053429 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Inborn genetic diseases
RS763054014 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS763055603 SLC9A3 Health Risk Pathogenic —
« Prev 1 ... 3405 3406 3407 3408 3409 3410 3411 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →