MMEL1, membrane metalloendopeptidase like 1, 79258

N. diseases: 74; N. variants: 11
Disease: Primary sclerosing cholangitis ×
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: rs3748816
rs3748816 		0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.700 1.000 2 2012 2013