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
RS762424912 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS762425082 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762425767 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS762425885 LRP4 Health Risk Likely pathogenic Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS762426127 ABCA12 Health Risk Likely pathogenic —
RS762426409 PDE6C Health Risk Pathogenic/Likely pathogenic Cone dystrophy 4, Cone dystrophy 4
RS762426947 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS762427092 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS762427627 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS762427755 CHD8 Health Risk Conflicting classifications of pathogenicity CHD8-related disorder, Intellectual developmental disorder with autism and macrocephaly
RS762428862 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS762428889 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS762430363 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS762432847 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS762434314 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS762434811 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Cardiovascular phenotype
RS762436173 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS762436279 PSAT1 Health Risk Conflicting classifications of pathogenicity PSAT deficiency, Neu-Laxova syndrome 2
RS762436724 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS762437563 S1PR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762438505 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS762438750 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS762438787 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS762439008 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS762439479 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS762440627 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS762440899 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS762440985 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS762441496 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS762442011 LPIN2 Health Risk Pathogenic Majeed syndrome, LPIN2-related disorder
RS762443300 VPS33B Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS762444001 C2CD3 Health Risk Likely pathogenic —
RS762444592 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS762446869 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS762448047 ELP1 Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Familial dysautonomia
RS762449180 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS762449462 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS762450131 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS762451292 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762452921 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS762453215 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS762453492 TUBGCP6 Health Risk Likely pathogenic —
RS762454192 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS762455286 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762455950 FUZ Health Risk Uncertain significance; association Neural tube defect, Neural tube defect
RS762456298 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS762458355 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS762458625 TEX15 Health Risk Pathogenic —
RS762458631 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS762459214 OTOGL Health Risk Likely pathogenic —
RS762459906 ELP1 Health Risk Pathogenic —
RS762460101 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hematuria
RS762460746 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS762462326 ERCC3 Health Risk Pathogenic —
RS762462902 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS762463137 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS762463347 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS762463914 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS762464339 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762464497 CIBAR1 Health Risk Likely pathogenic Polydactyly, postaxial
RS762466884 TTC7A Health Risk Pathogenic/Likely pathogenic Multiple gastrointestinal atresias, Gastrointestinal defect and immunodeficiency syndrome
RS762467865 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS762467883 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS762469320 LAMA5 Health Risk Conflicting classifications of pathogenicity —
RS762469913 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS762470432 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS762470485 ELANE Health Risk Pathogenic/Likely pathogenic Cyclical neutropenia, Neutropenia
RS762471207 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS762471494 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Prostate cancer
RS762474304 EFTUD2 Health Risk Conflicting classifications of pathogenicity Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS762474552 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Kabuki syndrome
RS762475019 SACS Health Risk Pathogenic Abnormal central motor function, Abnormal central motor function
RS762475508 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS762475657 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS762475732 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS762475898 LZTR1 Health Risk Likely pathogenic Noonan syndrome 1, Noonan syndrome 1
RS762477632 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS762479018 HSD3B2 Health Risk Pathogenic Congenital adrenal hyperplasia, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS762479722 NARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NARS2-related disorder
RS762479859 CHM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762480653 QDPR Health Risk Conflicting classifications of pathogenicity Dihydropteridine reductase deficiency, Inborn genetic diseases
RS762481817 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS762481926 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762482152 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS762482370 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS762482919 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS762483007 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS762483550 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS762483715 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS762484005 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS762486495 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Bronchiectasis with or without elevated sweat chloride 1
RS762486621 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS762487513 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS762488338 FGG Health Risk Conflicting classifications of pathogenicity Familial dysfibrinogenemia, Congenital afibrinogenemia
RS762488820 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS762489106 GNAT1 Health Risk Pathogenic —
RS762489156 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS762490192 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS762490709 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Charcot-Marie-Tooth disease
RS762491658 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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