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: rs1390191775
rs1390191775
1 1.000 0.120 X 56564879 missense variant A/C;G snv 5.5E-06; 5.5E-06 0.010 1.000 1 2013 2013
dbSNP: rs753009660
rs753009660
1 1.000 0.120 X 56564910 missense variant C/G snv 2.2E-05 3.8E-05 0.010 1.000 1 2013 2013