Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5030869
rs5030869
G6PD
0.882 0.120 X 154532990 missense variant C/A;T snv 5.5E-06; 1.9E-04 6.6E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 1981 2008