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: rs12046178
rs12046178
1 1.000 0.040 1 54106502 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1320254777
rs1320254777
1 1.000 0.040 14 54902565 missense variant G/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs27852
rs27852
1 1.000 0.040 5 96710335 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs3827336
rs3827336
1 1.000 0.040 22 32625012 intron variant C/G snv 9.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs5998557
rs5998557
1 1.000 0.040 22 32611052 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs6692804
rs6692804
1 1.000 0.040 1 109566120 intron variant G/A snv 0.29 0.010 1.000 1 2008 2008
dbSNP: rs753359396
rs753359396
TH
1 1.000 0.040 11 2168093 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs755509970
rs755509970
1 1.000 0.040 7 2244708 missense variant T/C snv 2.1E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs775129424
rs775129424
1 1.000 0.040 2 134898383 missense variant G/A snv 8.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs10746953
rs10746953
2 0.925 0.040 9 74302924 regulatory region variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs10788972
rs10788972
2 0.925 0.040 1 54106570 intron variant C/A snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs11186
rs11186
2 0.925 0.040 2 189032668 3 prime UTR variant A/C snv 9.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs13153459
rs13153459
2 0.925 0.040 5 44515833 intron variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1362858
rs1362858
2 0.925 0.040 18 35406636 upstream gene variant C/A snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1366901063
rs1366901063
2 0.925 0.040 11 123060725 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1559085
rs1559085
2 0.925 0.040 5 96742998 intron variant A/G snv 9.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs1879553
rs1879553
2 0.925 0.040 3 118896616 downstream gene variant A/G snv 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs374880482
rs374880482
CHM
2 0.925 0.040 X 85963748 missense variant T/C snv 3.3E-05 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs56285021
rs56285021
2 0.925 0.040 5 122422868 missense variant T/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs66737902
rs66737902
2 0.925 0.040 12 40367861 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs6783485
rs6783485
2 0.925 0.040 3 59442071 intron variant G/A snv 5.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs7669
rs7669
2 0.925 0.040 13 27435714 missense variant G/A;C snv 0.15 0.15 0.010 1.000 1 2007 2007
dbSNP: rs7702187
rs7702187
2 0.925 0.040 5 9332169 intron variant T/A snv 0.70 0.010 1.000 1 2006 2006
dbSNP: rs823144
rs823144
2 0.925 0.040 1 205775418 5 prime UTR variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs849898
rs849898
2 0.925 0.040 1 227966216 intergenic variant A/C;G snv 0.010 1.000 1 2016 2016