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: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 1.000 1 2015 2015
dbSNP: rs13280604
rs13280604
7 0.851 0.160 8 42704443 5 prime UTR variant G/A snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs1451240
rs1451240
4 0.925 0.080 8 42691568 intergenic variant A/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs1800498
rs1800498
4 0.882 0.080 11 113420866 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs2020936
rs2020936
10 0.776 0.160 17 30223796 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2019 2019
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs806368
rs806368
14 0.752 0.280 6 88140381 3 prime UTR variant T/C snv 0.19 0.010 < 0.001 1 2016 2016