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: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 1.000 20 2007 2020
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.090 1.000 9 2011 2019
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2009 2017
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2009 2017
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.040 1.000 4 2009 2017
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.020 1.000 2 2017 2019
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.020 1.000 2 2014 2017
dbSNP: rs1050171
rs1050171
6 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs13222385
rs13222385
3 1.000 0.160 7 55183900 intron variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs139429793
rs139429793
4 0.925 0.120 7 55155928 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs140516819
rs140516819
4 7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs35918369
rs35918369
4 7 55205613 missense variant C/T snv 3.1E-04 3.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs556324078
rs556324078
3 7 55205514 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs746763556
rs746763556
2 7 55160230 missense variant T/A;G snv 1.6E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs748491031
rs748491031
8 0.827 0.120 7 55200384 stop gained C/G;T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs767505234
rs767505234
3 1.000 0.040 7 55174033 missense variant C/T snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs961150162
rs961150162
3 7 55198779 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs987532315
rs987532315
2 7 55201782 splice region variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012