SMC3, structural maintenance of chromosomes 3, 9126

N. diseases: 193; N. variants: 21
Disease: Megacolon ×
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: rs886041239
rs886041239 		1.000 0.160 10 110593202 missense variant A/G snv
CUI: C0025160
Disease: Megacolon
Megacolon 		Digestive System Diseases 0.700 0