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: rs727504348
rs727504348
2 0.925 0.160 X 101397982 missense variant C/T snv 0.700 1.000 3 1995 2007
dbSNP: rs398123226
rs398123226
3 0.882 0.160 X 101398403 missense variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs28935197
rs28935197
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.700 1.000 11 1993 2017
dbSNP: rs199473684
rs199473684
3 0.925 0.160 X 101399747 3 prime UTR variant C/T snv 0.700 1.000 13 2002 2017
dbSNP: rs104894845
rs104894845
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs104894833
rs104894833
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs397515871
rs397515871
1 1.000 0.040 X 101407834 missense variant A/T snv 0.010 1.000 1 2012 2012
dbSNP: rs376477806
rs376477806
2 0.925 0.040 12 101648107 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs778924100
rs778924100
2 0.925 0.040 12 104318981 stop gained C/G;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs759589565
rs759589565
2 0.925 0.040 12 104321227 missense variant A/G snv 4.0E-05 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs570903247
rs570903247
1 1.000 0.040 2 105363414 missense variant C/A;T snv 1.1E-04; 2.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs113188481
rs113188481
1 1.000 0.040 2 105363443 missense variant C/T snv 3.5E-03 1.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs727504674
rs727504674
1 1.000 0.040 2 105363461 missense variant G/A snv 6.3E-05 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs104894630
rs104894630
4 0.882 0.120 17 10692805 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs587777220
rs587777220
4 0.882 0.120 17 10692932 missense variant C/T snv 1.2E-05 7.0E-06 0.020 0.500 2 2009 2013
dbSNP: rs561901401
rs561901401
2 1.000 0.040 11 1074959 non coding transcript exon variant G/C;T snv 1.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs745428980
rs745428980
2 1.000 0.040 11 1075743 non coding transcript exon variant G/A;T snv 8.2E-06; 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs368972037
rs368972037
2 0.925 0.080 12 10882431 missense variant G/C snv 1.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs397516407
rs397516407
2 0.925 0.080 12 110911090 missense variant T/C;G snv 0.700 0
dbSNP: rs397516406
rs397516406
2 0.925 0.040 12 110911093 missense variant C/T snv 0.710 1.000 4 2008 2018
dbSNP: rs199474814
rs199474814
1 1.000 0.040 12 110911094 missense variant C/T snv 0.700 1.000 2 2008 2013
dbSNP: rs727503296
rs727503296
1 1.000 0.040 12 110911096 missense variant T/C snv 0.700 0
dbSNP: rs397516399
rs397516399
1 1.000 0.040 12 110914200 missense variant C/G;T snv 0.700 0
dbSNP: rs587782965
rs587782965
3 0.882 0.080 12 110914221 missense variant G/T snv 0.700 0
dbSNP: rs397516398
rs397516398
1 1.000 0.040 12 110914267 missense variant C/T snv 0.700 0