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
RS2478695232 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478700578 MTRR Health Risk Likely pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2478700673 NIPBL Health Risk Pathogenic —
RS2478703868 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2478705208 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2478705556 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2478709601 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2478711473 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478712407 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478712447 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478717105 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2478718213 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478718388 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478732243 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478733662 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478733723 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478739096 PRDM5 Health Risk Likely pathogenic —
RS2478740609 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2478742432 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2478742839 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2478743643 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2478743697 HMGCR Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS2478744517 MAP1B Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2478750306 PRDM5 Health Risk Pathogenic —
RS2478752327 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478752513 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478752617 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478752679 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478752812 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478752819 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478757000 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478757125 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478757152 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478758255 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478759512 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478760298 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478762696 SLC45A2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS2478764195 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478764201 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478764227 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478765910 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478768967 NIPBL Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS2478770513 NIPBL Health Risk Likely pathogenic —
RS2478770815 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2478771380 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2478771388 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2478771441 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2478771447 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2478771456 MSH3 Health Risk Pathogenic —
RS2478771460 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2478771486 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2478771635 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2478771709 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2478771713 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478771748 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2478771891 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478771894 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478771904 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478771943 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2478772044 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2478772049 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2478772053 MSH3 Health Risk Likely pathogenic —
RS2478772075 MSH3 Health Risk Likely pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2478772082 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478773393 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478773552 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478773732 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS2478774638 SLC45A2 Health Risk Pathogenic —
RS2478775818 SLC45A2 Health Risk Pathogenic —
RS2478775996 SLC45A2 Health Risk Likely pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS2478777191 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478786719 NDUFS4 Health Risk Pathogenic —
RS2478786848 NDUFS4 Health Risk Pathogenic —
RS2478786907 NDUFS4 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex I deficiency
RS2478786990 NDUFS4 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS2478787110 NDUFS4 Health Risk Pathogenic —
RS2478787227 NDUFS4 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS2478787355 NDUFS4 Health Risk Pathogenic —
RS2478787439 NDUFS4 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS2478788965 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2478788974 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2478789020 MSH3 Health Risk Pathogenic —
RS2478789037 MSH3 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2478789116 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2478789143 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS2478789202 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2478789216 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2478789267 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS2478789412 MSH3 Health Risk Pathogenic —
RS2478791909 SLC45A2 Health Risk Pathogenic —
RS2478794 ATAD3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2478797022 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2478800173 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2478802312 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS2478802501 HMGCR Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS2478804768 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2478804790 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2478804926 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2478804953 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2478804975 HMGCR Health Risk Pathogenic Muscular dystrophy, limb-girdle
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