MEGF6, multiple EGF like domains 6, 1953

N. diseases: 5; N. variants: 2
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: rs12725009
rs12725009 		1.000 0.120 1 3497433 intron variant G/A snv 9.9E-03
CUI: C0005689
Disease: Bladder Exstrophy
Bladder Exstrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs947345
rs947345 		1.000 0.080 1 3507824 missense variant G/A snv 4.7E-02 6.1E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005