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: rs1054765878
rs1054765878
1 1.000 0.040 5 139394555 missense variant C/T snv 2.1E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1114167279
rs1114167279
1 1.000 0.040 5 139394411 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016