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: rs17398575
rs17398575
3 0.882 0.040 7 106769006 intron variant G/A snv 0.20 0.800 1.000 1 2011 2011
dbSNP: rs201989364
rs201989364
3 0.882 0.080 3 186854295 missense variant A/G snv 6.4E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs212528
rs212528
3 0.925 0.040 1 21259168 intron variant T/C snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs2269422
rs2269422
3 0.882 0.040 6 32183517 intron variant T/C snv 1.7E-02 5.8E-03 0.010 1.000 1 2019 2019
dbSNP: rs28937313
rs28937313
3 0.882 0.160 9 104822520 missense variant T/C snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4712972
rs4712972
3 0.882 0.160 6 25771819 intron variant A/C;G snv 0.800 1.000 1 2011 2011
dbSNP: rs4916251
rs4916251
3 0.882 0.040 1 172377256 intron variant T/A snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs537765533
rs537765533
3 0.882 0.080 2 113132839 missense variant G/C snv 2.0E-05 0.010 1.000 1 2003 2003
dbSNP: rs539179964
rs539179964
3 0.882 0.080 8 104248720 missense variant C/T snv 1.6E-05 4.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs6666258
rs6666258
3 0.882 0.080 1 154841792 intron variant G/C snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs74577862
rs74577862
3 0.882 0.080 3 186843903 intron variant G/A snv 1.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs746481995
rs746481995
3 0.882 0.120 1 209707123 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs750805885
rs750805885
3 0.882 0.080 1 150579475 frameshift variant -/C delins 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs7629265
rs7629265
3 0.882 0.080 3 38607330 intron variant C/T snv 2.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs7833904
rs7833904
3 0.882 0.040 8 58505103 upstream gene variant A/T snv 0.55 0.010 < 0.001 1 2015 2015
dbSNP: rs79681911
rs79681911
3 0.882 0.040 11 18269755 missense variant G/A snv 2.1E-03 8.0E-04 0.010 1.000 1 2013 2013
dbSNP: rs8042271
rs8042271
3 0.882 0.040 15 89030987 intergenic variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs8070488
rs8070488
HGS
3 0.882 0.080 17 81696901 synonymous variant T/C snv 0.21 0.26 0.010 1.000 1 2014 2014
dbSNP: rs121918313
rs121918313
4 0.851 0.080 12 12164494 missense variant G/A snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs12762303
rs12762303
4 0.851 0.080 10 45373723 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2008 2008
dbSNP: rs1298417395
rs1298417395
4 0.882 0.080 1 176206716 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1440763451
rs1440763451
4 0.882 0.080 3 12416849 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1867624
rs1867624
4 0.851 0.080 17 64309731 upstream gene variant C/T snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs200222843
rs200222843
4 0.851 0.120 2 21003286 missense variant G/A snv 4.0E-05 4.2E-05 0.010 1.000 1 1989 1989
dbSNP: rs243330
rs243330
4 0.851 0.240 16 11257134 intron variant C/T snv 0.49 0.010 1.000 1 2016 2016