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rs281864943

From SNPedia

ClinVar
Risk rs281864943(GG,GGCGGTGCAGCCGAAGGAG;GG,GGCGGTGCAGCCGAAGGAG)
Alt rs281864943(GG,GGCGGTGCAGCCGAAGGAG;GG,GGCGGTGCAGCCGAAGGAG)
Reference rs281864943(G;G)
Significance Pathogenic
Disease Lynch syndrome not specified Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MSH2
CLNDBN Lynch syndrome not specified Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000002.11:g.47630334_47630351dup18; NC_000002.11:g.47630351dupG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076618.2, RCV000220732.1, RCV000221366.1, RCV000076420.2,