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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913322
rs121913322
4 0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04 0.700 0
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2007 2007
dbSNP: rs121964872
rs121964872
3 0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04 0.700 0
dbSNP: rs1256030
rs1256030
6 0.827 0.240 14 64280452 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1256031
rs1256031
9 0.790 0.200 14 64279461 intron variant G/A;T snv 0.57 0.010 1.000 1 2009 2009
dbSNP: rs1271572
rs1271572
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.020 1.000 2 2009 2011
dbSNP: rs1799950
rs1799950
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs185229225
rs185229225
4 0.851 0.120 4 13607505 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs2073495
rs2073495
LTF
4 0.851 0.200 3 46439467 missense variant C/A;G snv 4.9E-04; 0.33 0.010 1.000 1 2011 2011
dbSNP: rs238406
rs238406
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2017 2017
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2015 2015
dbSNP: rs3218536
rs3218536
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs495139
rs495139
4 0.882 0.120 18 676008 intron variant G/C snv 0.63 0.020 1.000 2 2010 2018
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs80358721
rs80358721
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2016 2016
dbSNP: rs9110
rs9110
LTF
4 0.851 0.200 3 46439310 missense variant A/C;G;T snv 0.39 0.40 0.010 1.000 1 2011 2011