COMT, catechol-O-methyltransferase, 1312

N. diseases: 622; N. variants: 47
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: rs4680
rs4680 		0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.050 0.800 5 2004 2015
dbSNP: rs4633
rs4633 		0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2008 2008
dbSNP: rs4818
rs4818 		0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2008 2008
dbSNP: rs5031015
rs5031015 		0.925 0.080 22 19963580 missense variant G/A snv 6.9E-04 2.5E-03
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2008 2008