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
RS1909596551 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1909597270 SCN4A Health Risk Pathogenic Congenital myasthenic syndrome 16, Congenital myasthenic syndrome 16
RS190961216 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1909619442 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1909619692 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1909650741 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS190965235 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS190967471 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS190968346 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1909702747 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS190972540 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, SKIC2-related disorder
RS190978463 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHD8-related disorder
RS190979363 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Ovarian serous cystadenocarcinoma
RS1909795937 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1909795990 SMAD4 Health Risk Likely pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli
RS1909818289 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1909820489 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1909823551 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS1909832718 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1909882416 SUZ12 Health Risk Pathogenic —
RS190988309 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS1909895611 SMAD4 Health Risk Likely pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome
RS1909899495 SMAD4 Health Risk Likely pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS1909901558 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS1909906368 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS190991689 GDPD2 Health Risk Conflicting classifications of pathogenicity —
RS1909920019 DCC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1909920586 DCC Health Risk Likely pathogenic Mirror movements 1, Mirror movements 1
RS1909936773 SUZ12 Health Risk Pathogenic Imagawa-Matsumoto syndrome, Imagawa-Matsumoto syndrome
RS190997558 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS190997924 OTOGL Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS190999087 PDE6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS191002419 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS191003311 ERLIN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, ERLIN2-related disorder
RS191009474 SCN5A Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Brugada syndrome 1
RS191012363 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS191014566 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS191015656 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, ANKRD26-related disorder
RS1910183166 SMAD4 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1910186100 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS191021194 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS1910352953 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1910353907 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1910359431 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS191036195 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191036710 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS191037362 LRRCC1 Health Risk Conflicting classifications of pathogenicity —
RS1910419866 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS191042013 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS1910429809 GAN Health Risk Pathogenic/Likely pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS1910478581 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1910480814 SMAD4 Health Risk Pathogenic/Likely pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS1910484768 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome
RS191051353 GPI Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS1910517904 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1910518741 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS191054704 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS191057574 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS191057824 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1910631809 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1910636198 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1910644710 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1910655109 RGS9 Health Risk Likely pathogenic —
RS1910656890 RGS9 Health Risk Pathogenic —
RS191068215 SPINK1 Health Risk Conflicting classifications of pathogenicity Tropical pancreatitis, Hereditary pancreatitis
RS191072842 NAV1 Health Risk Conflicting classifications of pathogenicity —
RS191074858 ZNF335 Health Risk Conflicting classifications of pathogenicity ZNF335-related disorder, ZNF335-related disorder
RS191075257 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia 5A
RS1910760503 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS191078968 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS191081055 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS191081991 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS191083003 FSIP2 Health Risk Pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS1910941663 RGS9 Health Risk Pathogenic —
RS1910973930 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1910994325 PRPF8 Health Risk Pathogenic —
RS1910994795 PRPF8 Health Risk Pathogenic/Likely pathogenic —
RS1911000715 PRPF8 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1911000944 PRPF8 Health Risk Pathogenic —
RS1911001854 PRPF8 Health Risk Pathogenic Retinitis pigmentosa 13, Retinal disorder
RS1911004419 PRPF8 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1911029601 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 13, Retinitis pigmentosa 13
RS191104356 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS191105001 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, FRAS1-related disorder
RS191107774 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1911079646 PRPF8 Health Risk Pathogenic —
RS1911081749 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS191109849 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS191115811 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, HLCS-related disorder
RS1911196248 PRPF8;RILP Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS191125006 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS191128410 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1911322255 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1911391944 PRPF8 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Inborn genetic diseases
RS191145030 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS191145848 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS191148548 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS1911505318 PRPF8 Health Risk Likely pathogenic Retinitis pigmentosa 13, Retinitis pigmentosa 13
RS1911510393 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS191151467 SPTA1 Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 1323 1324 1325 1326 1327 1328 1329 ... 4509 Next »

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

Get Started Free →