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: rs515726208
rs515726208
1 1.000 0.040 5 147824702 missense variant G/A snv 3.2E-05 1.4E-05 0.020 1.000 2 2001 2003
dbSNP: rs13228878
rs13228878
1 1.000 0.040 7 142765617 intron variant G/A snv 0.51 0.010 < 0.001 1 2019 2019
dbSNP: rs139232307
rs139232307
1 1.000 0.040 7 142773300 missense variant G/A snv 1.4E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs145867820
rs145867820
1 1.000 0.040 7 142751775 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs34708521
rs34708521
1 1.000 0.040 5 35670201 missense variant G/A;T snv 0.10; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs379742
rs379742
1 1.000 0.040 X 106250703 intergenic variant G/A snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs5917027
rs5917027
1 1.000 0.040 X 106919404 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs62228256
rs62228256
1 1.000 0.040 20 51837908 intron variant C/T snv 2.7E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs2647087
rs2647087
2 1.000 0.040 6 32713272 upstream gene variant A/C snv 0.29 0.020 1.000 2 2014 2018
dbSNP: rs397507442
rs397507442
2 0.925 0.040 7 142750579 missense variant A/G snv 0.020 1.000 2 2000 2006
dbSNP: rs111033564
rs111033564
2 0.925 0.040 7 142751808 splice donor variant G/A snv 3.6E-05 9.8E-05 0.010 < 0.001 1 2004 2004
dbSNP: rs1335550286
rs1335550286
2 1.000 0.040 19 44909005 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs142560329
rs142560329
2 0.925 0.040 1 15445703 missense variant C/T snv 9.9E-05 2.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs1451011538
rs1451011538
2 0.925 0.080 16 84838647 missense variant T/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs199422123
rs199422123
2 0.925 0.040 7 142751934 missense variant G/A;T snv 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs199695765
rs199695765
2 0.925 0.160 7 130269008 stop gained C/T snv 8.8E-05 1.3E-04 0.010 1.000 1 2016 2016
dbSNP: rs2995271
rs2995271
2 0.925 0.040 10 30230903 regulatory region variant C/T snv 0.64 0.800 1.000 1 2012 2012
dbSNP: rs4409525
rs4409525
2 0.925 0.040 X 106897095 intron variant G/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs4437130
rs4437130
2 1.000 0.040 3 2035283 intergenic variant G/A snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs574363219
rs574363219
2 1.000 0.040 11 116790427 missense variant C/T snv 1.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs62561366
rs62561366
2 1.000 0.040 9 95555669 intergenic variant A/T snv 3.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs72558408
rs72558408
OTC
2 0.925 0.160 X 38403681 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs756271986
rs756271986
2 0.925 0.040 7 142773430 missense variant GC/AT mnv 0.010 < 0.001 1 2004 2004
dbSNP: rs764176833
rs764176833
2 0.925 0.040 7 142773430 missense variant G/A snv 0.010 < 0.001 1 2004 2004
dbSNP: rs111033567
rs111033567
3 0.882 0.040 7 142750582 missense variant A/G snv 0.040 1.000 4 2000 2020