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
RS753269143 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS75326924 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Inherited bleeding disorder
RS753270420 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS753270443 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS753270542 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases
RS753270641 GHR Health Risk Pathogenic —
RS753271148 SCN1B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 5
RS753271305 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS753272712 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia
RS753272955 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS753273893 SLC26A5 Health Risk Conflicting classifications of pathogenicity —
RS753275152 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS753275336 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS753275419 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS753276270 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753277194 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS753277227 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753277514 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS753279446 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS753279755 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS753280668 GNRHR Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS753280877 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS753282248 VPS13B Health Risk Pathogenic —
RS753283086 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS753283873 PEX7 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS753283972 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS753284434 LETM1 Health Risk Pathogenic LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration
RS753284739 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS753286589 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS753287764 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve
RS753287841 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS753288164 DMD Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS753288303 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS753289059 TUBGCP6 Health Risk Likely pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS753289586 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS753289916 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS753291151 WDR19 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS753291303 ALDH3A2 Health Risk Pathogenic —
RS75329154 ARHGEF6 Health Risk Conflicting classifications of pathogenicity ARHGEF6-related disorder, ARHGEF6-related disorder
RS753292024 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS753292241 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS753293188 KRT83 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 5, Erythrokeratodermia variabilis et progressiva 5
RS753294770 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS753295868 NT5C2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 45, Neurodevelopmental disorder
RS753295968 LZTR1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 2, Noonan syndrome 10
RS753296078 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS753296261 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Hyperinsulinemic hypoglycemia
RS753296393 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS753297152 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS753299061 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS753299915 CARD8 Health Risk Likely pathogenic Inflammatory bowel disease 30, Inflammatory bowel disease 30
RS753300178 CFAP43 Health Risk Pathogenic Spermatogenic failure 19, Spermatogenic failure 19
RS753300394 VPS13A Health Risk Conflicting classifications of pathogenicity —
RS753300898 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS753301358 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS753302494 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS753303277 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS753306883 TOPORS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753307105 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS753307279 DNAH1 Health Risk Likely pathogenic Non-syndromic male infertility due to sperm motility disorder, Non-syndromic male infertility due to sperm motility disorder
RS753307498 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS753307725 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS753308387 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 41
RS753308829 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS753308994 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS753309074 CPT1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS753312340 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D
RS753312969 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS753313121 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS753313462 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS753313963 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, Peters plus syndrome
RS753314164 MAK Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 62
RS753314680 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS753315223 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS753315599 SHH Health Risk Likely pathogenic Microphthalmia, isolated
RS753315808 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, Inborn genetic diseases
RS753316557 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS753317536 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS753317811 GPR179 Health Risk Likely pathogenic —
RS753319377 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CREBBP-related disorder
RS753324280 SLC7A9 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS753324919 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 5
RS753324947 ASCC1 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy with congenital bone fractures 2, See cases
RS753324965 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS753325067 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753325454 ERCC4 Health Risk Pathogenic Xeroderma pigmentosum, group F
RS753327806 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS753329079 ABCC2 Health Risk Likely pathogenic ABCC2-related disorder, ABCC2-related disorder
RS753329341 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS753330544 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa
RS753330854 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS753331607 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS753332305 RUNX2 Health Risk Conflicting classifications of pathogenicity Cleidocranial dysostosis, Inborn genetic diseases
RS753333359 TTN-AS1;TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS753334568 TTN Health Risk Pathogenic/Likely pathogenic Myopathy, myofibrillar
RS753334715 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Inborn genetic diseases
RS753334806 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS753334817 BEST1 Health Risk Pathogenic BEST1-related disorder, BEST1-related disorder
RS753334968 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753335678 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
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