Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.880 1.000 8 2013 2019
dbSNP: rs1011102664
rs1011102664
PECAM1
2 1.000 0.120 17 64375191 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017