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: rs180177042
rs180177042
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 8 1968 2013