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: rs4331426
rs4331426
2 0.925 0.080 18 22610832 intergenic variant G/A snv 0.86 0.880 0.778 9 2010 2016
dbSNP: rs2057178
rs2057178
1 1.000 0.040 11 32342641 intron variant G/A snv 0.18 0.830 0.800 5 2012 2016
dbSNP: rs1075309
rs1075309
1 1.000 0.040 2 5113465 intergenic variant C/T snv 0.20 0.800 1.000 1 2014 2014
dbSNP: rs12294076
rs12294076
1 1.000 0.040 11 103256336 intron variant T/C snv 6.8E-02 0.800 1.000 1 2014 2014
dbSNP: rs142513793
rs142513793
1 1.000 0.040 X 48047088 intron variant C/T snv 2.1E-02 0.800 1.000 1 2014 2014
dbSNP: rs17175227
rs17175227
1 1.000 0.040 14 70035333 downstream gene variant G/A;C snv 2.1E-02 0.800 1.000 1 2014 2014
dbSNP: rs1925714
rs1925714
1 1.000 0.040 1 228515588 upstream gene variant A/G snv 0.81 0.800 1.000 1 2014 2014
dbSNP: rs2202157
rs2202157
1 1.000 0.040 3 26501929 intergenic variant C/T snv 0.12 0.800 1.000 1 2014 2014
dbSNP: rs3218255
rs3218255
1 1.000 0.040 22 37148446 intron variant G/A snv 0.21 0.800 1.000 1 2014 2014
dbSNP: rs451390
rs451390
1 1.000 0.040 21 41923401 intron variant G/C snv 7.5E-02 0.800 1.000 1 2014 2014
dbSNP: rs6676375
rs6676375
1 1.000 0.040 1 242711583 intergenic variant T/C snv 0.15 0.800 1.000 1 2014 2014
dbSNP: rs9373523
rs9373523
2 1.000 0.040 6 147379997 intron variant T/G snv 0.62 0.800 1.000 1 2010 2010
dbSNP: rs958617
rs958617
1 1.000 0.040 4 77684215 intergenic variant A/G snv 0.56 0.800 1.000 1 2014 2014
dbSNP: rs4733781
rs4733781
1 1.000 0.040 8 130284521 intron variant A/C snv 0.29 0.740 1.000 4 2015 2019
dbSNP: rs1495741
rs1495741
9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.710 1.000 2 2016 2019
dbSNP: rs4240897
rs4240897
1 1.000 0.040 1 11982698 intron variant G/A snv 0.43 0.710 1.000 1 2017 2017
dbSNP: rs73226617
rs73226617
2 0.925 0.040 3 141681811 intron variant G/A snv 4.4E-02 0.710 1.000 1 2019 2019
dbSNP: rs11012476
rs11012476
3 0.925 0.120 10 21003994 intron variant C/T snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs11031728
rs11031728
1 1.000 0.040 11 32342070 intron variant C/G snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs11031731
rs11031731
3 0.925 0.040 11 32343884 upstream gene variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs11958933
rs11958933
1 1.000 0.040 5 25323598 intron variant G/A snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs12437118
rs12437118
1 1.000 0.040 14 76517387 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2269497
rs2269497
1 1.000 0.040 4 3428129 missense variant A/G snv 4.0E-02 2.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs2543007
rs2543007
1 1.000 0.040 18 45471734 intron variant T/C snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs41553512
rs41553512
1 1.000 0.040 6 32518625 missense variant C/T snv 0.12 4.6E-02 0.700 1.000 1 2017 2017