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: rs1556026984
rs1556026984
0.925 0.120 X 134475194 missense variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 3 2014 2015