MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Carcinoma of ampulla of Vater ×
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: rs63750339
rs63750339 		0.925 0.200 3 37020441 frameshift variant C/- delins
CUI: C0262401
Disease: Carcinoma of ampulla of Vater
Carcinoma of ampulla of Vater 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019