MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Endometrial Carcinoma ×
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: rs28930073
rs28930073 		0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2005 2005
dbSNP: rs55907433
rs55907433 		0.925 0.120 3 37048583 missense variant A/G;T snv 1.1E-03; 4.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2002 2002