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: rs141441277
rs141441277
5 0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs2078178
rs2078178
1 1.000 0.040 12 10123963 intron variant A/G snv 0.55 0.010 < 0.001 1 2015 2015
dbSNP: rs10418707
rs10418707
1 1.000 0.040 19 10145541 intron variant G/A;T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10423341
rs10423341
1 1.000 0.040 19 10156590 intron variant C/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs3213607
rs3213607
2 0.925 0.080 6 102035481 synonymous variant C/A;T snv 6.5E-02; 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs1051312
rs1051312
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs35678
rs35678
2 0.925 0.040 3 10338239 missense variant C/T snv 0.49 0.47 0.010 1.000 1 2012 2012
dbSNP: rs241509
rs241509
1 1.000 0.040 3 10345375 intron variant C/A;T snv 0.45 0.010 1.000 1 2011 2011
dbSNP: rs736707
rs736707
6 0.851 0.040 7 103489956 intron variant A/G snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1275980031
rs1275980031
2 1.000 0.040 7 103540259 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3774180
rs3774180
1 1.000 0.040 3 10355304 intron variant T/C snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs2278556
rs2278556
2 0.925 0.040 3 10360419 intron variant G/A snv 0.34 0.010 1.000 1 2011 2011
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 2014 2014
dbSNP: rs7341475
rs7341475
6 0.851 0.240 7 103764368 intron variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs2237659
rs2237659
1 1.000 0.040 7 107207047 intron variant T/G snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2158836
rs2158836
1 1.000 0.040 7 107940394 non coding transcript exon variant A/G snv 0.63 0.64 0.010 1.000 1 2015 2015
dbSNP: rs20556
rs20556
1 1.000 0.040 7 107953544 missense variant T/C snv 0.65 0.66 0.010 1.000 1 2015 2015
dbSNP: rs25659
rs25659
1 1.000 0.040 7 107986325 synonymous variant G/A snv 0.12 0.11 0.010 1.000 1 2015 2015
dbSNP: rs3918346
rs3918346
DAO
2 0.925 0.040 12 108888108 intron variant G/A snv 0.34 0.010 < 0.001 1 2007 2007
dbSNP: rs3825251
rs3825251
DAO
2 0.925 0.040 12 108894208 intron variant A/G snv 0.18 0.010 < 0.001 1 2007 2007
dbSNP: rs17606561
rs17606561
2 1.000 0.040 6 10982126 3 prime UTR variant G/A snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs3756963
rs3756963
4 0.882 0.200 6 11021921 intron variant T/C snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs10498676
rs10498676
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs9468304
rs9468304
2 1.000 0.040 6 11041932 intron variant G/A snv 0.19 0.010 1.000 1 2018 2018