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: rs797046134
rs797046134
1 1.000 0.040 15 100914748 missense variant T/C snv 0.700 0
dbSNP: rs1553920379
rs1553920379
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1566823361
rs1566823361
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs34002892
rs34002892
8 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014
dbSNP: rs2227281
rs2227281
1 1.000 0.040 6 102055321 intron variant C/T snv 0.31 0.29 0.010 1.000 1 2007 2007
dbSNP: rs2227283
rs2227283
3 0.882 0.080 6 102055442 missense variant G/A;C;T snv 0.40; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2235076
rs2235076
2 0.925 0.080 6 102068385 missense variant G/A snv 1.8E-02 1.7E-02 0.030 1.000 3 2006 2010
dbSNP: rs1409313
rs1409313
2 1.000 0.040 10 102431844 intron variant T/C snv 0.85 0.010 1.000 1 2019 2019
dbSNP: rs363043
rs363043
3 0.925 0.080 20 10245498 intron variant C/T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs11191454
rs11191454
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs1051312
rs1051312
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs11191580
rs11191580
13 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs35678
rs35678
2 0.925 0.040 3 10338239 missense variant C/T snv 0.49 0.47 0.010 1.000 1 2013 2013
dbSNP: rs73714410
rs73714410
1 1.000 0.040 7 103489775 missense variant C/G;T snv 6.0E-05; 3.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs736707
rs736707
6 0.851 0.040 7 103489956 intron variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs2278556
rs2278556
2 0.925 0.040 3 10360419 intron variant G/A snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs362691
rs362691
3 0.882 0.120 7 103610714 missense variant G/A;C;T snv 1.2E-05; 0.12 0.010 1.000 1 2013 2013
dbSNP: rs7910584
rs7910584
1 1.000 0.040 10 106607970 intron variant C/A snv 0.65 0.700 1.000 1 2012 2012
dbSNP: rs11211996
rs11211996
1 1.000 0.040 11 106987949 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1895729
rs1895729
1 1.000 0.040 11 107113002 intergenic variant G/A snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs10749886
rs10749886
1 1.000 0.040 11 107129809 intergenic variant G/A snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs3797817
rs3797817
FER
1 1.000 0.040 5 108948641 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs4773054
rs4773054
2 1.000 0.040 13 109501681 intron variant T/C snv 0.89 0.700 1.000 1 2015 2015
dbSNP: rs10498676
rs10498676
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018