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: rs1057519932
rs1057519932
21 0.679 0.286 3 179234298 missense variant T/G snp 0.700 1 2016 2016
dbSNP: rs121913279
rs121913279
68 0.559 0.536 3 179234297 missense variant A/G,T snp 4.0E-06; 4.0E-06 0.700 1 2016 2016
dbSNP: rs121913281
rs121913281
24 0.662 0.429 3 179234296 missense variant C/T snp 0.700 1 2016 2016