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: rs104894914
rs104894914
4 0.851 0.120 X 154191716 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs121434621
rs121434621
3 0.882 0.120 X 154154602 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs121907986
rs121907986
3 0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs121908212
rs121908212
14 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs137852212
rs137852212
2 0.925 0.120 X 132084546 missense variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs1384483492
rs1384483492
2 0.925 0.120 12 49295697 missense variant A/G snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs142248415
rs142248415
1 1.000 0.080 4 102634957 missense variant A/G;T snv 4.0E-06; 2.1E-03 7.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs28940893
rs28940893
6 0.827 0.160 22 50625392 missense variant G/A snv 3.9E-04 3.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs61755771
rs61755771
5 0.827 0.160 6 42722199 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs746681765
rs746681765
3 0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs781584789
rs781584789
1 1.000 0.080 4 102639814 missense variant C/T snv 8.8E-05 1.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs786205579
rs786205579
2 0.925 0.120 6 42721838 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1064795104
rs1064795104
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs387907144
rs387907144
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs80338796
rs80338796
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs121918358
rs121918358
5 0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04 0.700 1.000 1 2016 2016
dbSNP: rs141659620
rs141659620
5 0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1555817157
rs1555817157
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
dbSNP: rs61755320
rs61755320
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs72547551
rs72547551
5 0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 0.700 1.000 1 2016 2016
dbSNP: rs748309520
rs748309520
5 0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs748787734
rs748787734
13 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs752746786
rs752746786
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs752989523
rs752989523
5 0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs778361520
rs778361520
9 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017