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: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.900 0.961 51 2007 2020
dbSNP: rs10210302
rs10210302
1 1.000 0.040 2 233250193 intron variant C/A;T snv 0.810 1.000 2 2007 2010
dbSNP: rs3792109
rs3792109
1 1.000 0.040 2 233275771 non coding transcript exon variant G/A snv 0.45 0.42 0.800 1.000 2 2010 2013
dbSNP: rs12994997
rs12994997
2 1.000 0.040 2 233264857 intron variant G/A;C snv 0.45; 4.0E-06 0.800 1.000 1 2012 2012
dbSNP: rs3828309
rs3828309
3 0.882 0.160 2 233271764 intron variant A/G snv 0.42 0.800 1.000 1 2008 2008
dbSNP: rs35300242
rs35300242
5 0.827 0.120 2 233260144 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs36001488
rs36001488
14 0.724 0.240 2 233276621 intron variant C/T snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs6738490
rs6738490
1 1.000 0.040 2 233252937 intron variant T/C snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs6752107
rs6752107
2 1.000 0.040 2 233252802 intron variant G/A snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs901312933
rs901312933
4 0.882 0.120 2 233282746 missense variant G/A;T snv 0.060 1.000 6 2007 2016
dbSNP: rs2241879
rs2241879
3 0.882 0.080 2 233274822 intron variant G/A snv 0.45 0.44 0.030 1.000 3 2008 2012
dbSNP: rs1460966559
rs1460966559
1 1.000 0.040 2 233270020 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1474156473
rs1474156473
3 0.925 0.040 2 233293259 synonymous variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs3792106
rs3792106
1 1.000 0.040 2 233282094 intron variant T/C snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs4663396
rs4663396
2 0.925 0.040 2 233283605 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs4663402
rs4663402
4 0.851 0.080 2 233285017 intron variant A/T snv 5.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs4663421
rs4663421
3 0.882 0.080 2 233293054 intron variant G/C snv 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs6737398
rs6737398
2 0.925 0.040 2 233261751 intron variant G/A snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs6754677
rs6754677
1 1.000 0.040 2 233290815 intron variant G/A snv 0.53 0.010 1.000 1 2020 2020
dbSNP: rs748872005
rs748872005
1 1.000 0.040 2 233265070 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs764831363
rs764831363
1 1.000 0.040 2 233270018 synonymous variant C/T snv 9.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs769075316
rs769075316
1 1.000 0.040 2 233273764 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs892505480
rs892505480
1 1.000 0.040 2 233273776 missense variant G/C snv 0.010 1.000 1 2012 2012