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
RS2138430436 POLE Health Risk Pathogenic —
RS2138430866 POLE Health Risk Pathogenic —
RS2138431829 POLE Health Risk Likely pathogenic Intrauterine growth retardation, metaphyseal dysplasia
RS2138459040 POLE Health Risk Likely pathogenic —
RS2138459935 POLE Health Risk Pathogenic —
RS2138460253 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138460365 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138460631 POLE Health Risk Pathogenic —
RS2138463732 POLE Health Risk Pathogenic —
RS2138464484 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138465301 POLE Health Risk Pathogenic —
RS2138474789 POLE Health Risk Pathogenic —
RS2138475576 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138484952 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138485176 POLE Health Risk Pathogenic —
RS2138485893 POLE Health Risk Pathogenic —
RS2138487274 POLE Health Risk Pathogenic —
RS2138492919 SMAD9 Health Risk Pathogenic Pulmonary hypertension, primary
RS2138499783 POLE Health Risk Likely pathogenic —
RS2138508114 POLE Health Risk Likely pathogenic —
RS2138509335 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS2138511092 POLE Health Risk Pathogenic —
RS2138511721 POLE Health Risk Conflicting classifications of pathogenicity —
RS2138518600 POLR1D Health Risk Pathogenic —
RS2138519077 POLR1D Health Risk Pathogenic Treacher Collins syndrome 2, Treacher Collins syndrome 2
RS2138519194 POLR1D Health Risk Pathogenic Treacher Collins syndrome 2, Treacher Collins syndrome 2
RS2138523727 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2138525867 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138529662 POLE Health Risk Pathogenic —
RS2138530347 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138533307 POLE Health Risk Likely pathogenic —
RS2138535398 POLE Health Risk Pathogenic —
RS2138535474 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138535526 POLE Health Risk Pathogenic —
RS2138535602 POLE Health Risk Pathogenic —
RS2138536072 POLE Health Risk Pathogenic —
RS2138538396 POLE Health Risk Likely pathogenic —
RS2138542793 POLE Health Risk Pathogenic —
RS2138543250 POLE Health Risk Pathogenic —
RS2138548669 F10 Health Risk Pathogenic Factor X deficiency, Factor X deficiency
RS2138549402 POLE Health Risk Likely pathogenic —
RS2138557145 CPAP Health Risk Pathogenic —
RS2138557799 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS2138560807 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2138561490 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2138562773 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2138570106 FAM177A1 Health Risk Pathogenic —
RS2138570625 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138571104 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138574560 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138576515 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138578550 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2138580919 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2138586206 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2138596618 POLE Health Risk Pathogenic —
RS2138597281 POLE Health Risk Pathogenic —
RS2138597699 POLE Health Risk Pathogenic —
RS2138604919 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138605837 POLE Health Risk Pathogenic —
RS2138607404 POLE Health Risk Pathogenic —
RS2138609765 POLE Health Risk Pathogenic —
RS2138611542 POLE Health Risk Pathogenic —
RS2138614148 POLE Health Risk Pathogenic —
RS2138614805 POLE Health Risk Pathogenic —
RS2138615621 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138615931 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2138616482 CELF2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 97, Neurodevelopmental disorder
RS2138617864 ACBD5 Health Risk Pathogenic —
RS2138635168 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS2138638382 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2138638712 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2138638795 MYH7 Health Risk Likely pathogenic MYH7-related skeletal myopathy, MYH7-related skeletal myopathy
RS2138640908 MYH7 Health Risk Likely pathogenic —
RS2138642157 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2138642164 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2138644623 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2138645345 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, 6 conditions
RS2138657518 POLE Health Risk Pathogenic —
RS2138659699 CPAP Health Risk Pathogenic —
RS2138660154 POLE Health Risk Conflicting classifications of pathogenicity —
RS2138660395 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660420 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660457 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660627 CPAP Health Risk Likely pathogenic Microcephaly 6, primary
RS2138660628 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660646 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS2138660687 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660748 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660947 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660968 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661043 FOXG1 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2138661058 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661060 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661070 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661094 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661139 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661161 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661170 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661171 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661191 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
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