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: rs137852214
rs137852214
1 1.000 X 129823724 missense variant G/A snv 0.800 0
dbSNP: rs137852215
rs137852215
1 1.000 X 129823718 missense variant G/A snv 0.800 0
dbSNP: rs1131690786
rs1131690786
1 1.000 X 129829023 missense variant G/A snv 0.700 0
dbSNP: rs1569321518
rs1569321518
1 1.000 X 129829041 missense variant C/T snv 0.700 0
dbSNP: rs606231182
rs606231182
1 1.000 X 129829134 frameshift variant AGCG/- del 0.700 0
dbSNP: rs606231183
rs606231183
1 1.000 X 129841774 splice region variant C/G snv 0.700 0