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: rs1071630
rs1071630
4 0.851 0.120 6 32641349 missense variant T/A;C snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs1129740
rs1129740
3 0.882 0.080 6 32641328 missense variant G/A snv 0.49 0.26 0.010 1.000 1 2018 2018