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: rs10336
rs10336
4 0.851 0.240 4 76001835 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2006 2011
dbSNP: rs1048412
rs1048412
1 1.000 6 30064718 3 prime UTR variant A/G snv 0.15 0.17 0.010 1.000 1 2010 2010
dbSNP: rs10833
rs10833
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs10892151
rs10892151
3 1.000 11 117661016 intron variant C/T snv 9.7E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs11045819
rs11045819
4 0.851 0.120 12 21176879 missense variant C/A;T snv 0.11; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1126477
rs1126477
LTF
7 0.807 0.200 3 46459778 missense variant C/T snv 0.34 0.53 0.010 1.000 1 2015 2015
dbSNP: rs1126478
rs1126478
LTF
11 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11881222
rs11881222
3 0.925 0.080 19 39244283 intron variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1188975135
rs1188975135
4 0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1194919682
rs1194919682
2 0.925 0.040 2 136115158 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2006 2006
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2018 2018
dbSNP: rs1272938495
rs1272938495
1 1.000 2 136115225 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1276738522
rs1276738522
1 1.000 12 6232664 start lost A/G snv 4.9E-06 0.010 1.000 1 2001 2001
dbSNP: rs1292288729
rs1292288729
1 1.000 19 41009375 missense variant T/C snv 7.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.060 1.000 6 2010 2018
dbSNP: rs14158
rs14158
5 0.851 0.160 19 11131368 synonymous variant G/A snv 0.24 0.22 0.010 1.000 1 2013 2013
dbSNP: rs1433591886
rs1433591886
1 1.000 2 169633213 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2002 2002
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.040 1.000 4 2001 2011
dbSNP: rs1799972
rs1799972
6 0.827 0.080 6 154039561 missense variant C/A;G;T snv 4.1E-06; 1.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2014 2014