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: rs587777585
rs587777585
0.882 6 30918851 missense variant C/G;T snv 2.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 6 2011 2017