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
RS2493741184 DENND5A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 49
RS2493741274 ZMIZ1 Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, See cases
RS2493742377 MMP21 Health Risk Likely pathogenic Heterotaxy, visceral
RS2493743195 MMP21 Health Risk Likely pathogenic MMP21-related disorder, MMP21-related disorder
RS2493743511 DENND5A Health Risk Likely pathogenic —
RS2493746999 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2493747181 EBF3 Health Risk Conflicting classifications of pathogenicity Hypotonia, ataxia
RS2493752971 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493753029 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493753054 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753150 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493753192 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753199 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753280 PTEN Health Risk Pathogenic Cowden syndrome, Cowden syndrome 1
RS2493753371 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493753426 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753433 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753571 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493753593 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753703 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753707 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493753765 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753791 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753806 PTEN Health Risk Likely pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS2493753839 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753870 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493753909 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493754032 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493754060 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493754080 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493754108 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS2493754168 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493754213 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493754254 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS2493754372 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493754453 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2493754512 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493754559 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493754565 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493754671 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493754701 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS2493754756 PTEN Health Risk Pathogenic Cowden syndrome 1, Hereditary cancer-predisposing syndrome
RS2493754955 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493761829 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS2493763082 NRAP Health Risk Pathogenic —
RS2493765408 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493765421 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2493765663 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493765685 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493765699 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493765757 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493765801 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493765842 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493765900 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493766001 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493766022 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493766056 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493766080 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493766218 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS2493766454 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493766484 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493766551 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493766571 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493766600 PTEN Health Risk Pathogenic/Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493766606 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493766725 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS2493766755 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493766779 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493766832 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493766872 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493767001 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493767008 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493767020 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493767037 PTEN Health Risk Pathogenic Cowden syndrome 1, Macrocephaly-autism syndrome
RS2493767067 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493767087 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493767157 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493767193 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493767214 PTEN Health Risk Likely pathogenic —
RS2493767248 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493767317 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS2493767406 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493767415 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493767454 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493767512 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493767552 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493767589 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493767801 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS2493767896 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493767928 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS2493767959 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493767970 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493771954 DENND5A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 49
RS2493773472 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493773609 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493774030 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493774067 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493774176 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493774228 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493774256 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
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