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: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs104894685
rs104894685
FTL
4 0.925 0.120 19 48966317 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs111501952
rs111501952
2 1.000 0.040 12 40310461 missense variant G/A snv 4.4E-05 7.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 1.000 1 2011 2011
dbSNP: rs113388242
rs113388242
3 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs121908683
rs121908683
5 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs121918304
rs121918304
4 0.925 0.080 22 32498453 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1239756674
rs1239756674
2 1.000 0.040 X 43743818 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs12817488
rs12817488
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs1290141855
rs1290141855
3 1.000 0.040 16 55698539 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs137852538
rs137852538
3 0.925 0.080 X 78117385 missense variant A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs139548132
rs139548132
2 1.000 1 119140608 missense variant A/C;G;T snv 3.2E-03; 1.6E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1417802320
rs1417802320
1 1 7962861 missense variant A/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1426868527
rs1426868527
3 1 20633841 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs1555727942
rs1555727942
3 0.925 0.160 19 15180807 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs188286943
rs188286943
9 0.776 0.160 16 46662452 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs201106962
rs201106962
5 0.851 0.080 4 89828156 missense variant A/C snv 8.0E-05 7.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs2421947
rs2421947
2 1.000 0.040 1 171863954 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs242557
rs242557
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs267604921
rs267604921
3 0.925 0.160 17 45993953 missense variant C/A;G;T snv 6.3E-05; 2.5E-04; 5.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs28940285
rs28940285
2 1.000 0.040 1 20645640 missense variant T/C snv 1.6E-05 3.5E-05 0.010 1.000 1 2007 2007