MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
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: rs63750086
rs63750086 		0.882 0.200 2 47429891 frameshift variant AG/- del
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs63750875
rs63750875 		0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2008 2011
dbSNP: rs549467183
rs549467183 		0.925 0.080 2 47475228 missense variant G/A snv 1.3E-04 3.5E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2002 2002
dbSNP: rs864622121
rs864622121 		1.000 0.080 2 47475228 frameshift variant GT/- del
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2002 2002