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: rs121909658
rs121909658
8 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.010 1.000 1 2002 2002
dbSNP: rs1383243266
rs1383243266
1 1.000 0.080 11 35190033 missense variant T/A snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs148279853
rs148279853
2 0.925 0.080 2 49068234 missense variant C/G;T snv 5.5E-04; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs556910456
rs556910456
1 1.000 0.080 11 35221684 missense variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002