COQ4, coenzyme Q4, 51117

N. diseases: 17; N. variants: 16
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: rs1045118320
rs1045118320
0.925 9 128332219 missense variant C/A snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 2005 2017
dbSNP: rs758522459
rs758522459
0.925 9 128323147 missense variant G/C snv 4.3E-05 7.0E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 2005 2017