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: rs12936511
rs12936511
5 0.925 0.080 17 45807036 synonymous variant C/T snv 3.1E-02 3.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs13440581
rs13440581
5 0.882 0.080 X 151181399 missense variant A/G snv 0.45 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1364647619
rs1364647619
3 0.925 0.080 2 25161334 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs139315125
rs139315125
7 0.851 0.080 1 7809900 missense variant A/G snv 5.6E-03 5.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs139832701
rs139832701
3 0.925 0.080 3 8773124 intron variant T/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1402757753
rs1402757753
4 0.882 0.080 12 132621913 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1409851868
rs1409851868
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1415259
rs1415259
5 0.925 0.080 1 162115519 intron variant C/T snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs1491850
rs1491850
6 0.925 0.080 11 27728178 intron variant T/C snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs1491851
rs1491851
4 0.925 0.080 11 27731216 intron variant T/C;G snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs156243
rs156243
6 0.925 0.080 6 104416939 intergenic variant G/A snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs174696
rs174696
3 0.925 0.080 22 19965653 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs174697
rs174697
5 0.851 0.080 22 19966309 intron variant A/G snv 0.88 0.010 1.000 1 2012 2012
dbSNP: rs17759843
rs17759843
4 0.882 0.080 22 21920372 3 prime UTR variant G/A snv 6.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800035
rs1800035
4 0.925 0.080 10 111078794 missense variant C/G;T snv 1.9E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs1858232
rs1858232
4 0.882 0.080 1 162334048 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1935062
rs1935062
3 0.882 0.080 13 105475787 intron variant A/C snv 0.32 0.010 < 0.001 1 2010 2010
dbSNP: rs1937863
rs1937863
3 0.925 0.080 10 5009340 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2070587
rs2070587
DAO
5 0.882 0.080 12 108883967 intron variant T/G snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs2072115
rs2072115
5 0.882 0.080 12 47751585 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs2072621
rs2072621
7 0.851 0.080 X 151177387 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2133450
rs2133450
3 0.925 0.080 3 7294765 intron variant A/C snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs2242446
rs2242446
9 0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2253206
rs2253206
6 0.851 0.080 2 207527254 intron variant A/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs2268498
rs2268498
7 0.827 0.080 3 8770725 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017