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: rs1860545
rs1860545
7 0.790 0.200 12 6337611 intron variant G/A snv 0.31 0.700 1.000 2 2013 2016
dbSNP: rs4149570
rs4149570
11 0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv 0.020 1.000 2 2017 2018
dbSNP: rs767455
rs767455
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.020 1.000 2 2009 2018
dbSNP: rs1800693
rs1800693
9 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.010 1.000 1 2019 2019
dbSNP: rs2234649
rs2234649
3 0.925 0.120 12 6342197 upstream gene variant T/G snv 4.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs4149577
rs4149577
7 0.827 0.280 12 6338356 intron variant G/A;T snv 0.010 1.000 1 2011 2011