KDM5C, lysine demethylase 5C, 8242

N. diseases: 119; N. variants: 29
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: rs1556836399
rs1556836399
1.000 X 53195978 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 2005 2016
dbSNP: rs1556837420
rs1556837420
1.000 X 53196897 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 2005 2016
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
dbSNP: rs199422235
rs199422235
0.925 0.080 X 53211867 missense variant C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 2005 2016