MMEL1, membrane metalloendopeptidase like 1, 79258

N. diseases: 74; N. variants: 11
Disease: Celiac Disease ×
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: rs4445406
rs4445406 		1.000 0.080 1 2607961 intron variant T/C snv 0.41
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 2 2011 2012
dbSNP: rs3748816
rs3748816 		0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs4073285
rs4073285 		0.925 0.200 1 2608357 intron variant C/T snv 0.40
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016