HCFC1, host cell factor C1, 3054

N. diseases: 100; N. variants: 7
Disease: Dysmorphic facies ×
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: rs869312686
rs869312686 		0.882 0.120 X 153952053 missense variant G/C;T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0