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: rs748318386
rs748318386
1.000 9 91220824 missense variant G/A;T snv 4.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 4 2003 2010