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: rs1057520009
rs1057520009
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.020 1.000 2 2016 2017
dbSNP: rs6903608
rs6903608
11 0.742 0.400 6 32460508 intron variant C/G;T snv 0.020 1.000 2 2012 2015
dbSNP: rs10813831
rs10813831
2 0.925 0.120 9 32526148 missense variant G/A snv 0.21 0.24 0.010 1.000 1 2017 2017
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2012 2012
dbSNP: rs2248462
rs2248462
10 0.807 0.240 6 31479019 downstream gene variant G/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs2395185
rs2395185
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs2734986
rs2734986
5 0.827 0.160 6 29850791 intron variant T/C snv 0.10 0.010 1.000 1 2012 2012
dbSNP: rs27524
rs27524
4 0.851 0.160 5 96766240 intron variant A/G snv 0.61 0.010 1.000 1 2012 2012
dbSNP: rs6457715
rs6457715
2 0.925 0.120 6 33115411 intron variant A/G snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs6904029
rs6904029
4 0.851 0.200 6 29975290 non coding transcript exon variant G/A snv 0.29 0.26 0.010 1.000 1 2012 2012