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rs587779125

From SNPedia

ClinVar
Risk rs587779125(;)
Alt rs587779125(;)
Reference rs587779125(CTGGTAAAAAAC;CTGGTAAAAAAC)
Significance Probable-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.47702412_47702423delAAAAAACCTGGT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076344.2, RCV000202092.1, RCV000216625.1,