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: rs1027009063
rs1027009063
2 0.925 0.040 2 8802974 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1035029
rs1035029
C5
2 1.000 0.040 9 120980540 intron variant G/A snv 0.63 0.010 1.000 1 2010 2010
dbSNP: rs1041163
rs1041163
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.020 1.000 2 2014 2019
dbSNP: rs10484879
rs10484879
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs10760187
rs10760187
2 0.925 0.040 9 121803541 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs11084095
rs11084095
2 0.925 0.040 19 51623777 intron variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2013 2013
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 2017 2017
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 2017 2017
dbSNP: rs1126580
rs1126580
3 0.882 0.120 2 218136243 3 prime UTR variant G/A;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1131498
rs1131498
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2009 2009
dbSNP: rs11362
rs11362
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.020 1.000 2 2017 2019
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11536889
rs11536889
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs11621969
rs11621969
2 0.925 0.040 14 75347325 intergenic variant T/C snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs11634042
rs11634042
4 0.882 0.120 15 78813008 intron variant C/T snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs11800854
rs11800854
2 0.925 0.040 1 233584238 intergenic variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs12032672
rs12032672
3 0.925 0.040 1 88159953 intron variant A/C snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs13145041
rs13145041
2 0.925 0.040 4 189616909 intergenic variant A/C;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs13237474
rs13237474
2 0.925 0.040 7 135816721 intron variant C/T snv 2.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs133049
rs133049
4 0.882 0.080 22 40635351 intron variant A/- delins 0.82 0.010 1.000 1 2018 2018
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs1370967
rs1370967
2 0.925 0.040 5 111203694 intergenic variant G/A snv 7.8E-02 0.700 1.000 1 2013 2013