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: rs11224561
rs11224561
PGR
2 0.925 0.080 11 101034325 3 prime UTR variant C/A;T snv 0.020 1.000 2 2009 2011
dbSNP: rs1045242
rs1045242
3 0.925 0.080 5 119393632 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs10502289
rs10502289
2 0.925 0.080 18 676789 intron variant A/T snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs10733710
rs10733710
2 0.925 0.080 9 99145142 intron variant G/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs11196418
rs11196418
4 0.925 0.080 10 113678707 upstream gene variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs11196445
rs11196445
2 0.925 0.080 10 113710131 intron variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs1156807933
rs1156807933
3 0.925 0.080 14 65093799 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs117039649
rs117039649
4 0.925 0.080 12 68808776 intron variant G/C snv 2.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs1182154114
rs1182154114
2 0.925 0.080 16 28623160 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs12112075
rs12112075
3 0.925 0.080 7 44609201 intron variant G/A snv 1.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs12934561
rs12934561
3 0.882 0.080 16 3068864 intron variant T/C snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs1337082
rs1337082
2 0.925 0.080 X 67764173 intergenic variant G/A snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs140296720
rs140296720
2 0.925 0.080 6 30896816 missense variant G/A snv 4.3E-06 0.010 1.000 1 2014 2014
dbSNP: rs1438956733
rs1438956733
2 0.925 0.080 10 121515180 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1451539938
rs1451539938
3 0.925 0.080 11 44618361 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs149308960
rs149308960
4 0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs1694964
rs1694964
4 0.925 0.080 3 84885341 intron variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1740828
rs1740828
2 0.925 0.080 6 21648854 regulatory region variant G/A snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs201768983
rs201768983
2 0.925 0.080 3 195868640 missense variant C/T snv 1.2E-04 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs2298581
rs2298581
2 0.925 0.080 18 677931 intron variant C/G snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs2298583
rs2298583
2 0.925 0.080 18 677302 intron variant G/A snv 0.34 0.34 0.010 1.000 1 2009 2009
dbSNP: rs2453839
rs2453839
3 0.925 0.080 7 45913974 intron variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs2475335
rs2475335
3 0.882 0.080 9 10260263 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2494737
rs2494737
2 0.925 0.080 14 104779988 intron variant T/A snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs2494750
rs2494750
2 0.925 0.080 14 104796575 upstream gene variant G/C snv 0.86 0.010 < 0.001 1 2015 2015