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
RS397514752 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS397514753 TMEM231 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 11
RS397514754 TMEM231 Health Risk Likely pathogenic Meckel syndrome, type 11
RS397514755 CORO1A Health Risk Pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS397514756 ABCB6 Health Risk Pathogenic Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3
RS397514757 ABCB6 Health Risk Pathogenic Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3
RS397514758 ABCB6 Health Risk Pathogenic Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3
RS397514759 RPSA Health Risk Pathogenic Familial isolated congenital asplenia, Familial isolated congenital asplenia
RS397514760 RPSA Health Risk Pathogenic Familial isolated congenital asplenia, Familial isolated congenital asplenia
RS397514761 RPSA Health Risk Likely pathogenic Familial isolated congenital asplenia, Familial isolated congenital asplenia
RS397514762 RPSA Health Risk Pathogenic Familial isolated congenital asplenia, Familial isolated congenital asplenia
RS397514763 RPSA Health Risk Pathogenic Familial isolated congenital asplenia, Familial isolated congenital asplenia
RS397514764 UROD Health Risk Pathogenic Porphyria cutanea tarda, Porphyria cutanea tarda
RS397514765 UROD Health Risk Pathogenic Porphyria cutanea tarda, Familial porphyria cutanea tarda
RS397514766 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS397514767 CD59 Health Risk Pathogenic Primary CD59 deficiency, Primary CD59 deficiency
RS397514768 GNAI3 Health Risk Pathogenic Auriculocondylar syndrome 1, Auriculocondylar syndrome 1
RS397514769 PLCB4 Health Risk Pathogenic Auriculocondylar syndrome 2, Auriculocondylar syndrome 2
RS397514770 PLCB4 Health Risk Pathogenic Auriculocondylar syndrome 2, Auriculocondylar syndrome 2
RS397514771 PLCB4 Health Risk Pathogenic Auriculocondylar syndrome 2, Auriculocondylar syndrome 2
RS397514774 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514776 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS397514777 TSC1 Health Risk Pathogenic —
RS397514778 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514780 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Lymphangiomyomatosis
RS397514783 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514784 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514788 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514789 TSC1 Health Risk Pathogenic Malignant tumor of urinary bladder, Tuberous sclerosis syndrome
RS397514795 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS397514798 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514800 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS397514804 TSC1 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514806 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514808 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS397514814 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514815 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514819 TSC1 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514820 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514822 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Malignant tumor of urinary bladder
RS397514823 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS397514830 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS397514834 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS397514838 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS397514840 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514842 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514846 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514847 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514855 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514859 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514861 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514862 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514863 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514864 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS397514865 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514867 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514869 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS397514870 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514871 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514874 TSC1 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS397514879 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS397514884 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514887 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS397514888 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514897 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Isolated focal cortical dysplasia type II
RS397514898 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS397514899 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514901 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514902 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514905 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS397514912 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514913 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514914 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS397514915 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514916 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514919 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS397514922 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514924 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS397514929 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS397514933 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514939 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514941 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514945 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514949 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514952 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514953 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514958 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514959 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514964 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514968 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514969 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS397514972 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514976 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514978 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514979 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS397514980 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS397514982 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS397514984 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS397514990 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS397514991 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
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