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: rs121907936
rs121907936
GAA
3 0.882 0.120 17 80107894 missense variant T/A;C snv 4.2E-05 5.6E-05 0.700 0
dbSNP: rs121907937
rs121907937
GAA
2 0.925 0.120 17 80110950 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121907939
rs121907939
GAA
1 1.000 0.120 17 80118711 inframe deletion AAG/- delins 0.700 0
dbSNP: rs28940868
rs28940868
GAA
4 0.851 0.120 17 80112922 missense variant C/A;T snv 1.2E-04; 8.2E-06 0.700 0