Source: ALL
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: rs1058808
rs1058808
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.710 1.000 2 2011 2013
dbSNP: rs11557467
rs11557467
5 0.851 0.200 17 39872381 missense variant G/T snv 0.45 0.45 0.710 1.000 2 2010 2011
dbSNP: rs1544791
rs1544791
1 1.000 0.080 5 60143255 intron variant T/A;C snv 0.710 1.000 2 2009 2016
dbSNP: rs1805013
rs1805013
2 0.925 0.120 16 27362659 missense variant C/T snv 3.6E-02 3.6E-02 0.710 1.000 2 2010 2016
dbSNP: rs1898671
rs1898671
5 0.851 0.160 5 111072304 intron variant C/T snv 0.25 0.710 1.000 2 2011 2019
dbSNP: rs2941504
rs2941504
1 1.000 0.080 17 39674647 synonymous variant A/G snv 0.67 0.64 0.710 1.000 2 2010 2011
dbSNP: rs3816470
rs3816470
3 0.925 0.160 17 39829548 intron variant A/G snv 0.54 0.710 1.000 2 2011 2015
dbSNP: rs3939286
rs3939286
12 0.776 0.360 9 6210099 regulatory region variant T/A;C snv 0.710 1.000 2 2010 2020
dbSNP: rs4795397
rs4795397
4 0.925 0.160 17 39867492 upstream gene variant A/G snv 0.38 0.710 1.000 2 2012 2017
dbSNP: rs4795400
rs4795400
3 0.925 0.080 17 39910767 intron variant C/T snv 0.36 0.710 1.000 2 2008 2011
dbSNP: rs7219080
rs7219080
1 1.000 0.080 17 39958263 intron variant A/C snv 0.65 0.710 1.000 2 2010 2016
dbSNP: rs11603634
rs11603634
2 1.000 0.080 11 1142570 intergenic variant A/G snv 0.38 0.710 1.000 1 2019 2019
dbSNP: rs117902240
rs117902240
2 1.000 0.080 8 121918402 intron variant T/G snv 7.6E-03 0.710 1.000 1 2017 2017
dbSNP: rs1422673
rs1422673
2 0.925 0.160 5 151059427 intron variant C/G;T snv 0.710 1.000 1 2012 2012
dbSNP: rs17572584
rs17572584
1 1.000 0.080 3 143169201 intergenic variant C/T snv 0.11 0.710 1.000 1 2010 2010
dbSNP: rs41295115
rs41295115
2 0.925 0.120 10 6082658 regulatory region variant T/C snv 4.8E-02 0.710 1.000 1 2014 2014
dbSNP: rs62026376
rs62026376
2 0.925 0.120 16 11134855 intron variant C/T snv 0.18 0.710 1.000 1 2014 2014
dbSNP: rs76043829
rs76043829
2 0.925 0.120 2 217812863 intron variant G/A snv 7.4E-02 0.710 1.000 1 2014 2014
dbSNP: rs848512
rs848512
1 1.000 0.080 2 36448387 intron variant A/G snv 0.75 0.710 1.000 1 2013 2013
dbSNP: rs34290285
rs34290285
8 0.851 0.120 2 241759225 intron variant G/A snv 0.27 0.700 1.000 5 2016 2019
dbSNP: rs12365699
rs12365699
5 0.882 0.120 11 118872577 regulatory region variant G/A snv 0.12 0.700 1.000 3 2019 2019
dbSNP: rs12413578
rs12413578
4 0.882 0.160 10 9007290 intergenic variant C/G;T snv 0.700 1.000 3 2016 2019
dbSNP: rs12964116
rs12964116
2 0.925 0.080 18 63775385 5 prime UTR variant A/G snv 3.0E-02 0.700 1.000 3 2019 2019
dbSNP: rs1438673
rs1438673
4 0.882 0.120 5 111131801 downstream gene variant C/T snv 0.61 0.700 1.000 3 2014 2019
dbSNP: rs2428494
rs2428494
5 0.827 0.160 6 31354420 intron variant T/A;C snv 0.700 1.000 3 2016 2019