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: rs12129861
rs12129861
3 0.925 0.120 1 145709377 upstream gene variant C/T snv 0.43 0.800 1.000 1 2009 2009
dbSNP: rs1797052
rs1797052
2 1 145707383 5 prime UTR variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs74119445
rs74119445
1 1 145709649 upstream gene variant G/A snv 3.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs9728619
rs9728619
3 0.925 0.120 1 145698627 intron variant A/G snv 0.51 0.700 1.000 1 2009 2009