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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 1.000 30 2005 2019
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2013 2020
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.030 1.000 3 2013 2019
dbSNP: rs2298383
rs2298383
11 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 0.020 1.000 2 2008 2019
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2016 2017
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2012 2016
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs10835210
rs10835210
4 0.882 0.040 11 27674363 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1110976
rs1110976
3 1.000 0.040 11 113413797 intron variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs112146896
rs112146896
2 1.000 0.040 1 15418527 intron variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1133503
rs1133503
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1181732881
rs1181732881
1 17 49969496 missense variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1208512188
rs1208512188
1 8 38030595 missense variant A/G snv 9.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs12454712
rs12454712
9 0.925 0.120 18 63178651 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1276624859
rs1276624859
3 0.925 0.080 8 38057134 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1960264
rs1960264
2 1.000 0.040 X 23781758 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2020936
rs2020936
10 0.776 0.160 17 30223796 intron variant G/A;C snv 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: rs2111902
rs2111902
DAO
3 0.925 0.080 12 108884971 intron variant T/A;G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs2349775
rs2349775
6 0.851 0.120 7 8678450 intron variant G/A;C snv 0.010 < 0.001 1 2014 2014