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: rs10865710
rs10865710
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.020 1.000 2 2012 2013
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.090 0.889 9 2009 2017
dbSNP: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 1.000 1 2010 2010
dbSNP: rs10954214
rs10954214
4 0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs10488631
rs10488631
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.810 1.000 5 2010 2019
dbSNP: rs2280714
rs2280714
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs12531711
rs12531711
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12534421
rs12534421
1 1.000 0.040 7 128984019 intron variant C/A snv 9.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs13238352
rs13238352
5 0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs36073657
rs36073657
1 1.000 0.040 7 129011468 intron variant C/T snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs62478615
rs62478615
1 1.000 0.040 7 129044262 intron variant G/C snv 9.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs13239597
rs13239597
3 0.882 0.080 7 129055929 non coding transcript exon variant C/A snv 9.0E-02 0.810 1.000 2 2013 2020
dbSNP: rs17424921
rs17424921
1 1.000 0.040 7 129068068 upstream gene variant G/C snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs17340351
rs17340351
2 0.925 0.040 7 129068743 upstream gene variant T/A snv 9.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs4342938
rs4342938
1 1.000 0.040 10 131557214 intergenic variant A/G snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs2243204
rs2243204
1 1.000 0.040 5 132663802 intron variant C/T snv 0.24 0.010 1.000 1 2006 2006
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 < 0.001 1 2010 2010
dbSNP: rs6920220
rs6920220
14 0.742 0.440 6 137685367 intron variant G/A snv 0.16 0.010 < 0.001 1 2010 2010
dbSNP: rs10499197
rs10499197
2 0.925 0.080 6 137811379 intergenic variant T/G snv 2.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.020 1.000 2 2010 2017
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs6932056
rs6932056
3 0.925 0.080 6 137921300 intergenic variant T/C snv 3.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs58721818
rs58721818
4 0.851 0.160 6 137922602 regulatory region variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs275652
rs275652
1 1.000 0.040 3 148697197 upstream gene variant T/G snv 0.20 0.010 1.000 1 2016 2016