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: rs11590421
rs11590421
4 0.851 0.080 1 38528443 intergenic variant G/A snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs1002442
rs1002442
4 0.851 0.080 10 60043304 non coding transcript exon variant T/G snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs9327881
rs9327881
4 0.851 0.080 5 103389394 intergenic variant G/A snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs35714695
rs35714695
5 0.827 0.080 17 28392769 intron variant G/A;T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs11987758
rs11987758
4 0.851 0.080 8 2180583 regulatory region variant G/A snv 0.12 0.700 1.000 1 2014 2014
dbSNP: rs7148498
rs7148498
4 0.851 0.080 14 95641618 intron variant C/T snv 0.12 0.700 1.000 1 2014 2014
dbSNP: rs10145110
rs10145110
4 0.851 0.080 14 101008533 intron variant C/T snv 9.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs34517613
rs34517613
5 0.827 0.080 17 28283226 intron variant C/T snv 9.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs551585
rs551585
4 0.851 0.080 1 76660688 intergenic variant C/A snv 8.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs4482178
rs4482178
4 0.851 0.080 13 85529954 intron variant C/A snv 8.4E-02 0.700 1.000 1 2014 2014
dbSNP: rs11744876
rs11744876
4 0.851 0.080 5 11084600 intron variant G/A snv 7.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs11061269
rs11061269
4 0.851 0.080 12 130971904 intron variant G/A snv 7.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs16975050
rs16975050
4 0.851 0.080 18 41607206 intron variant T/G snv 7.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs75285952
rs75285952
4 0.851 0.080 4 27902934 intergenic variant G/A snv 3.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs72911847
rs72911847
4 0.851 0.080 2 193714051 intergenic variant A/G snv 3.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs115134572
rs115134572
4 0.851 0.080 3 143629403 intron variant A/G snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs139550538
rs139550538
IDE
5 0.827 0.080 10 92524312 intron variant T/A snv 1.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs72466496
rs72466496
2 1.000 0.080 2 74361590 missense variant G/A snv 2.9E-03 2.8E-03 0.700 1.000 5 2004 2012
dbSNP: rs4148112
rs4148112
4 0.851 0.080 21 42230666 intron variant C/T snv 1.8E-03 0.700 1.000 1 2014 2014
dbSNP: rs80265967
rs80265967
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.800 1.000 20 1993 2009
dbSNP: rs71381481
rs71381481
1 1.000 0.080 17 35844483 missense variant G/A snv 5.6E-05 1.1E-04 0.010 1.000 1 2011 2011
dbSNP: rs771188948
rs771188948
1 1.000 0.080 17 35820067 missense variant G/A snv 1.6E-05 6.3E-05 0.010 1.000 1 2011 2011
dbSNP: rs892235577
rs892235577
2 0.925 0.080 3 49358271 missense variant G/A snv 1.5E-05 3.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs121909345
rs121909345
4 0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05 0.700 1.000 2 2004 2005
dbSNP: rs763330682
rs763330682
1 1.000 0.080 22 37103352 synonymous variant C/T snv 8.0E-06 2.1E-05 0.010 1.000 1 2001 2001