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: rs9971916
rs9971916
2 12 20535707 intron variant A/T snv 0.99 0.700 1.000 1 2012 2012
dbSNP: rs370911
rs370911
6 1 162323515 intron variant A/G snv 0.99 0.700 1.000 1 2012 2012
dbSNP: rs1912439
rs1912439
2 1 162324355 intron variant A/G snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs425820
rs425820
2 1 162323874 intron variant G/A snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs675504
rs675504
5 11 102959002 upstream gene variant A/G snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs1879997
rs1879997
2 3 119802381 intron variant T/C snv 0.97 0.700 1.000 1 2012 2012
dbSNP: rs4898521
rs4898521
2 12 49361379 downstream gene variant T/A snv 0.97 0.700 1.000 1 2019 2019
dbSNP: rs10954843
rs10954843
2 8 32419595 intron variant G/A snv 0.97 0.700 1.000 1 2012 2012
dbSNP: rs1881626
rs1881626
2 7 151825722 intron variant T/C snv 0.96 0.700 1.000 1 2012 2012
dbSNP: rs11921179
rs11921179
TRH
5 3 129976195 intron variant G/A snv 0.96 0.700 1.000 1 2012 2012
dbSNP: rs820164
rs820164
2 17 75719444 upstream gene variant C/T snv 0.95 0.700 1.000 1 2012 2012
dbSNP: rs480392
rs480392
3 1 107436774 synonymous variant A/C snv 0.99 0.95 0.700 1.000 1 2012 2012
dbSNP: rs1790082
rs1790082
2 11 73226816 intron variant C/T snv 0.95 0.700 1.000 1 2012 2012
dbSNP: rs2366858
rs2366858
2 7 80711306 regulatory region variant C/A snv 0.94 0.800 1.000 2 2013 2019
dbSNP: rs222826
rs222826
16 0.851 0.120 2 146120964 regulatory region variant T/C snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs1552481
rs1552481
2 1 154403877 non coding transcript exon variant C/T snv 0.94 0.700 1.000 1 2012 2012
dbSNP: rs7190256
rs7190256
16 0.851 0.120 16 72963084 intron variant C/T snv 0.94 0.700 1.000 1 2016 2016
dbSNP: rs2072560
rs2072560
5 11 116791110 missense variant T/C snv 0.89 0.94 0.700 1.000 1 2012 2012
dbSNP: rs6726798
rs6726798
3 2 218436132 intron variant A/C snv 0.94 0.700 1.000 1 2012 2012
dbSNP: rs6589565
rs6589565
5 11 116769521 intron variant A/G snv 0.93 0.700 1.000 1 2012 2012
dbSNP: rs10790162
rs10790162
7 0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 0.700 1.000 2 2011 2019
dbSNP: rs7483863
rs7483863
1 11 116781775 intron variant A/G snv 0.93 0.700 1.000 1 2018 2018
dbSNP: rs7350481
rs7350481
8 0.882 0.040 11 116715567 regulatory region variant T/C snv 0.93 0.700 1.000 2 2010 2019
dbSNP: rs2266788
rs2266788
19 0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93 0.800 1.000 3 2011 2018
dbSNP: rs9326246
rs9326246
9 0.925 0.040 11 116741017 intergenic variant C/G snv 0.93 0.700 1.000 1 2013 2013