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: rs863225264
rs863225264
6 0.827 0.240 1 11130747 missense variant C/T snv 0.020 1.000 2 2015 2016
dbSNP: rs765798990
rs765798990
2 0.925 0.120 1 9717609 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs863225460
rs863225460
5 0.882 0.200 3 179199160 missense variant T/A snv 0.010 1.000 1 2016 2016