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: rs1295686
rs1295686
7 0.882 0.160 5 132660151 intron variant T/A;C snv 0.68 0.800 1.000 2 2013 2015
dbSNP: rs12188917
rs12188917
1 1.000 0.120 5 132655393 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1295685
rs1295685
7 0.790 0.160 5 132660753 3 prime UTR variant A/G snv 0.81 0.700 1.000 1 2013 2013
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.700 1.000 1 2013 2013