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
RS2493824378 DCHS1 Health Risk Pathogenic —
RS2493825774 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493825798 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493830143 CTSD Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493831760 DCHS1 Health Risk Pathogenic —
RS2493834457 CTSD Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493834507 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493836772 DENND5A Health Risk Likely pathogenic —
RS2493839816 DCHS1 Health Risk Pathogenic —
RS2493841471 HACD1 Health Risk Pathogenic Congenital myopathy 11, Congenital myopathy 11
RS2493842342 ECHS1 Health Risk Conflicting classifications of pathogenicity —
RS2493842376 ECHS1 Health Risk Likely pathogenic —
RS2493842433 ECHS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2493843791 DCHS1 Health Risk Pathogenic Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS2493847217 HPSE2 Health Risk Likely pathogenic —
RS2493847739 ECHS1 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS2493849055 HACD1 Health Risk Pathogenic —
RS2493850822 MPDZ Health Risk Pathogenic —
RS2493852190 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2493859114 HACD1 Health Risk Pathogenic —
RS2493868037 HACD1 Health Risk Likely pathogenic Congenital myopathy 11, Congenital myopathy 11
RS2493869193 HACD1 Health Risk Pathogenic Congenital myopathy 11, Congenital myopathy 11
RS2493870342 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2493870388 KCNQ1 Health Risk Pathogenic/Likely pathogenic Cardiac arrhythmia, Long QT syndrome
RS2493870444 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2493874595 DENND5A Health Risk Pathogenic —
RS2493876974 COPB1 Health Risk Pathogenic Short stature, Failure to thrive
RS2493890591 SFXN4 Health Risk Pathogenic —
RS2493902455 HACD1 Health Risk Pathogenic —
RS2493906863 DENND5A Health Risk Pathogenic —
RS2493908435 MYO3A Health Risk Likely pathogenic MYO3A-related disorder, MYO3A-related disorder
RS2493910357 MYO3A Health Risk Pathogenic —
RS2493914688 WHRN Health Risk Pathogenic —
RS2493926592 MYO3A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS2493927502 DNA2 Health Risk Pathogenic Seckel syndrome 8, Seckel syndrome 8
RS2493938011 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2493938246 CDH23 Health Risk Pathogenic —
RS2493938342 CDH23 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2493939214 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2493944670 CEP55 Health Risk Likely pathogenic Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
RS2493945713 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS2493948073 HPS5 Health Risk Pathogenic —
RS2493949477 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2493949917 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2493950607 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2493951813 RRAS2 Health Risk Pathogenic/Likely pathogenic Adenocarcinoma of the large intestine, Noonan syndrome 12
RS2493953727 SYNE1 Health Risk Likely pathogenic —
RS2493954647 SOX6 Health Risk Likely pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS2493960489 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2493960548 CDH23 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2493960610 CDH23 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2493960671 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2493961036 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2493961296 CDH23 Health Risk Pathogenic —
RS2493964760 PRDX3 Health Risk Likely pathogenic —
RS2493967150 TNNI2 Health Risk Likely pathogenic Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS2493967214 TNNI2 Health Risk Likely pathogenic Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS2493971978 SOX6 Health Risk Pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS2493973819 PRDX3 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 32
RS2493978793 SOX6 Health Risk Likely pathogenic —
RS2493979514 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Myofibrillar myopathy 6
RS2493979552 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2493979814 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2493980073 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2493980111 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2493980114 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2493980164 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2493980818 EBF3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2493981548 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2493988502 HPS5 Health Risk Pathogenic —
RS2493999571 DNA2 Health Risk Pathogenic Rothmund-Thomson syndrome, Rothmund-Thomson syndrome type 4
RS2494001262 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494001370 CDH23 Health Risk Likely pathogenic —
RS2494007936 DNHD1 Health Risk Pathogenic —
RS2494009026 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2494009217 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2494009473 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2494009499 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2494009610 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Myofibrillar myopathy 6
RS2494009703 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2494009711 BAG3 Health Risk Likely pathogenic Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH
RS2494009723 BAG3 Health Risk Pathogenic —
RS2494009726 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2494009729 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2494009825 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2494013310 BAG3 Health Risk Likely pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS2494014139 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2494014239 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Primary familial dilated cardiomyopathy
RS2494014414 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2494014941 BAG3 Health Risk Likely pathogenic Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH
RS2494016040 CDH23 Health Risk Pathogenic —
RS2494019349 DNA2 Health Risk Likely pathogenic Rothmund-Thomson syndrome, Rothmund-Thomson syndrome type 4
RS2494021553 CDH23 Health Risk Likely pathogenic —
RS2494021576 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494021726 CDH23 Health Risk Pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2494022006 CDH23 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2494022078 CDH23 Health Risk Pathogenic —
RS2494022190 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494022472 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1HH
RS2494022514 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
« Prev 1 ... 2131 2132 2133 2134 2135 2136 2137 ... 4509 Next »

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

Get Started Free →