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: rs10473984
rs10473984
1 5 76971301 intron variant G/T snv 0.12 0.010 1.000 1 2010 2010
dbSNP: rs1080963
rs1080963
1 22 15376497 intergenic variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs12137927
rs12137927
1 1 7811169 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs138191010
rs138191010
1 7 145416641 intergenic variant G/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1403522266
rs1403522266
1 4 47320137 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1475157
rs1475157
1 6 6016936 intergenic variant A/G snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs2965087
rs2965087
1 7 103471538 intron variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs3756290
rs3756290
1 5 131616057 intron variant A/G snv 0.56 0.010 < 0.001 1 2017 2017
dbSNP: rs4481363
rs4481363
1 5 165047713 intron variant C/A snv 0.55 0.010 < 0.001 1 2017 2017
dbSNP: rs5440
rs5440
1 12 6839735 3 prime UTR variant A/G snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs58682566
rs58682566
1 18 45951902 intron variant A/G snv 9.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs713224
rs713224
1 4 186491213 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs749865093
rs749865093
1 11 18029360 missense variant C/T snv 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs753009654
rs753009654
1 6 6002360 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs757522886
rs757522886
MTR
1 1 236885125 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs7582472
rs7582472
1 2 133887223 regulatory region variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs8836
rs8836
1 17 76081416 3 prime UTR variant G/A;C;T snv 1.6E-05; 0.54; 4.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs10055255
rs10055255
2 1.000 0.040 5 76968168 intron variant A/T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs10914456
rs10914456
2 1.000 0.040 1 31622570 intron variant T/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs10997870
rs10997870
2 1.000 0.040 10 67908257 intron variant G/T snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs11046205
rs11046205
2 12 21839392 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11265263
rs11265263
2 1 159740727 intergenic variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs161645
rs161645
2 1.000 0.040 5 104734216 intron variant A/G snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs17689882
rs17689882
2 17 45829462 intron variant G/A snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs2175898
rs2175898
2 6 151875817 intron variant C/G;T snv 0.010 1.000 1 2016 2016