MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587778966
rs587778966
0.925 0.160 3 36996698 frameshift variant -/C delins
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs63750206
rs63750206
0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015