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: rs1057519910
rs1057519910
4 0.851 0.160 19 4117551 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121434498
rs121434498
6 0.807 0.280 19 4117553 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016