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: rs137852540
rs137852540
0.925 0.080 X 107640936 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 1993 2015
dbSNP: rs1556299881
rs1556299881
1.000 X 107640900 splice acceptor variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 1993 2015