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: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs10766075
rs10766075
6 0.925 0.080 11 13297040 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs10830963
rs10830963
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 < 0.001 1 2011 2011
dbSNP: rs10864315
rs10864315
3 1 7790021 intron variant C/T snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs11022778
rs11022778
6 0.925 0.080 11 13369313 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11600996
rs11600996
4 1.000 0.040 11 13374619 intron variant T/C snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1212171
rs1212171
8 0.851 0.120 9 84667612 upstream gene variant C/T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs1229030855
rs1229030855
4 0.925 0.080 12 56428321 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1481892
rs1481892
3 11 13280374 intron variant G/C snv 0.62 0.010 1.000 1 2016 2016
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: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs1982350
rs1982350
4 11 13328584 intron variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.010 1.000 1 2017 2017
dbSNP: rs2291739
rs2291739
6 0.925 0.080 12 56420869 missense variant G/A;C snv 0.49; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2640909
rs2640909
4 1 7830057 missense variant T/C snv 0.14 0.23 0.010 1.000 1 2016 2016
dbSNP: rs28933385
rs28933385
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2014 2014
dbSNP: rs35275025
rs35275025
3 1.000 0.080 17 8141219 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3789327
rs3789327
6 0.925 0.080 11 13363769 intron variant A/G snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs3805148
rs3805148
3 4 55440643 intron variant A/C snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs4719714
rs4719714
5 1.000 0.080 7 22721094 intron variant A/T snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs61751362
rs61751362
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016