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: rs2101521
rs2101521
3 0.925 0.080 4 38809930 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6841698
rs6841698
4 0.882 0.080 4 38760093 upstream gene variant G/A snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs7565639
rs7565639
3 0.882 0.160 2 241854911 intron variant T/A;C snv 0.010 1.000 1 2020 2020