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
RS1060500602 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1060500603 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1060500605 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS1060500607 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1060500609 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1060500610 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1060500613 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1060500615 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1060500618 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1060500621 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1060500623 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1060500626 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome 1
RS1060500627 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1060500628 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1060500629 KCNQ1 Health Risk Pathogenic Long QT syndrome, Jervell and Lange-Nielsen syndrome
RS1060500652 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1060500653 ZEB2 Health Risk Pathogenic/Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1060500659 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1060500661 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1060500662 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1060500663 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1060500670 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1060500676 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS1060500687 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060500688 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1060500689 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060500692 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1060500694 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060500695 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060500698 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060500699 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060500702 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1060500703 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1060500706 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1060500707 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1060500716 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS1060500717 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Oto-palato-digital syndrome
RS1060500718 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS1060500725 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1060500731 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1060500733 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1060500734 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1060500738 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1060500739 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1060500740 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Squamous cell lung carcinoma
RS1060500741 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1060500742 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1060500744 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1060500745 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1060500747 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1060500754 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1060500759 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS1060500762 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1060500766 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Neoplasm
RS1060500770 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1060500771 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1060500773 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1060500777 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500781 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500782 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500788 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polymerase proofreading-related adenomatous polyposis
RS1060500790 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500792 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1060500804 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500805 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500806 POLE Health Risk Likely pathogenic Colorectal cancer, susceptibility to
RS1060500808 POLE Health Risk Likely pathogenic Familial colorectal cancer, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS1060500809 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS1060500814 POLE Health Risk Pathogenic —
RS1060500815 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500816 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500817 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500821 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500826 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1060500837 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500838 POLE Health Risk Likely pathogenic —
RS1060500839 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500851 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Hereditary cancer-predisposing syndrome
RS1060500855 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500856 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500859 POLE Health Risk Pathogenic —
RS1060500866 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500868 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500870 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Polymerase proofreading-related adenomatous polyposis
RS1060500876 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500878 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500879 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500882 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1060500883 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1060500890 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500892 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1060500896 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500897 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1060500900 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1060500901 FH Health Risk Pathogenic/Likely pathogenic Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1060500902 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS1060500903 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060500904 FH Health Risk Pathogenic —
RS1060500907 FH Health Risk Pathogenic —
RS1060500909 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease
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