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
RS45442096 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS45443096 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Lung cancer
RS45443205 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS45444999 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS45445199 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45445593 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45446594 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45446697 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45446901 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45447596 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS45447801 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS45447891 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS45447991 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45448101 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45448694 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS45448791 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45448801 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45448994 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45449094 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS45449298 MTHFR Health Risk Conflicting classifications of pathogenicity Neural tube defects, folate-sensitive
RS45450893 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS45451199 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45451303 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S
RS45451497 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45451896 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS45454192 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45454398 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45455099 SCN5A Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1E, Sick sinus syndrome 1
RS45455296 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45455398 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45455897 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45456595 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma-pancreatic cancer syndrome
RS45457297 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45457701 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45457795 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS45458203 SCN5A Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1E, Ventricular fibrillation
RS45458694 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS45458895 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS45459703 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS45459799 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS45460604 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS45460895 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45462192 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Lymphangiomyomatosis
RS45462194 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45462593 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45463996 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45464093 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS45464500 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS45464800 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45464991 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45465195 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45465395 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45466197 TNNT2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1D
RS45466296 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS45466595 RNF31 Health Risk Conflicting classifications of pathogenicity RNF31-related disorder, RNF31-related disorder
RS45467993 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45468199 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS45468201 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45468292 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS45468395 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS45468592 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45468895 LTBP2 Health Risk Conflicting classifications of pathogenicity Microspherophakia, Glaucoma 3
RS45469099 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45469298 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45469392 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45469896 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS4547 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Corticosterone 18-monooxygenase deficiency
RS45471299 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Inborn genetic diseases
RS45471596 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45471791 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45471896 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45471994 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, lidocaine-induced
RS45472691 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS45472701 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45473098 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS45473296 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45474691 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS45475501 PKD1;TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS45475594 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45475793 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS45475899 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 3
RS45476100 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45476495 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS45476696 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS45476793 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS45476795 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS45477298 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45477491 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Lymphangiomyomatosis
RS45477891 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS45478192 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS45478491 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS45478892 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45478894 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45478900 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder
RS45479192 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45479602 RRBP1 Health Risk Conflicting classifications of pathogenicity —
RS45480292 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Lymphangiomyomatosis
RS45480591 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS45481199 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS45481400 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
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