KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
Disease: Dysmorphic features ×
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: rs1057517955
rs1057517955 		0.925 0.080 X 53199128 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2005 2016