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: rs2236196
rs2236196
1 1.000 0.080 20 63346204 3 prime UTR variant G/A;C snv 0.71 0.020 1.000 2 2005 2009
dbSNP: rs2472553
rs2472553
1 1.000 0.080 8 27470994 missense variant G/A;T snv 0.17 0.020 1.000 2 2014 2014
dbSNP: rs880395
rs880395
2 1.000 0.080 15 78552014 3 prime UTR variant A/G;T snv 0.020 1.000 2 2017 2018
dbSNP: rs10082479
rs10082479
1 1.000 0.080 10 49621173 intron variant A/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs1044394
rs1044394
1 1.000 0.080 20 63350733 synonymous variant A/G snv 0.92 0.81 0.010 1.000 1 2011 2011
dbSNP: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs10798059
rs10798059
2 0.925 0.080 1 186830478 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs10865246
rs10865246
1 1.000 0.080 2 50443116 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1122530
rs1122530
1 1.000 0.080 9 84849437 intron variant A/G snv 0.22 0.010 1.000 1 2007 2007
dbSNP: rs1131339
rs1131339
2 0.925 0.080 9 99865020 3 prime UTR variant A/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs1187272
rs1187272
1 1.000 0.080 9 84789171 intron variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs12266458
rs12266458
1 1.000 0.080 10 49639951 intron variant C/T snv 0.11 0.010 1.000 1 2010 2010
dbSNP: rs12466358
rs12466358
1 1.000 0.080 2 232532815 intron variant T/G snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs12519
rs12519
1 1.000 0.080 9 89013167 3 prime UTR variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs12718541
rs12718541
2 0.925 0.080 7 50482446 intron variant A/G snv 0.55 0.010 1.000 1 2006 2006
dbSNP: rs1312171358
rs1312171358
1 1.000 0.080 6 88144597 synonymous variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs13273442
rs13273442
4 0.882 0.080 8 42688874 intergenic variant A/G snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs13277254
rs13277254
1 1.000 0.080 8 42694839 upstream gene variant G/A snv 0.66 0.010 1.000 1 2010 2010
dbSNP: rs13286166
rs13286166
1 1.000 0.080 9 741307 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1329650
rs1329650
6 0.882 0.080 10 91588363 regulatory region variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1331188
rs1331188
1 1.000 0.080 9 89110472 intron variant G/T snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs13334632
rs13334632
1 1.000 0.080 16 87457213 intron variant T/C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1334465665
rs1334465665
1 1.000 0.080 11 113414400 missense variant C/T snv 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs1411836
rs1411836
1 1.000 0.080 9 89160966 intron variant C/G;T snv 0.12 0.010 1.000 1 2007 2007
dbSNP: rs1438233520
rs1438233520
1 1.000 0.080 19 40844742 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011