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: rs1057519920
rs1057519920
7 0.790 0.160 2 177234232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
7 0.763 0.240 2 177234231 missense variant T/C snv 0.700 1.000 1 2016 2016