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: rs1553630221
rs1553630221
1.000 3 30672234 missense variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 6 2005 2016