Source: ALL
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: rs5754467
rs5754467
YDJC ; CCDC116
4 0.851 0.160 22 21630805 upstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2014 2014
dbSNP: rs774359492
rs774359492
WDHD1
7 0.807 0.200 14 55008684 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs11085725
rs11085725
TYK2
4 0.851 0.160 19 10351837 intron variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs2304256
rs2304256
TYK2
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2016 2016
dbSNP: rs34551253
rs34551253
TRPM5
2 0.925 0.080 11 2415234 missense variant C/A;T snv 2.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs1328142
rs1328142
TRPM3
1 1.000 0.040 9 70783498 intron variant C/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs540386
rs540386
TRAF6
4 0.851 0.200 11 36503743 intron variant C/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs12153855
rs12153855
TNXB
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs2071295
rs2071295
TNXB
2 0.925 0.120 6 32070923 intron variant C/T snv 0.25 0.700 1.000 1 2010 2010
dbSNP: rs2239689
rs2239689
TNXB
2 0.925 0.120 6 32062507 intron variant G/A snv 0.33 0.25 0.700 1.000 1 2010 2010
dbSNP: rs13239597
rs13239597
TNPO3 ; TPI1P2
3 0.882 0.080 7 129055929 non coding transcript exon variant C/A snv 9.0E-02 0.810 1.000 2 2013 2020
dbSNP: rs10488631
rs10488631
TNPO3
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.810 1.000 5 2010 2019
dbSNP: rs12531711
rs12531711
TNPO3
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12534421
rs12534421
TNPO3
1 1.000 0.040 7 128984019 intron variant C/A snv 9.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs13238352
rs13238352
TNPO3
5 0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs2280714
rs2280714
TNPO3
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs36073657
rs36073657
TNPO3
1 1.000 0.040 7 129011468 intron variant C/T snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs62478615
rs62478615
TNPO3
1 1.000 0.040 7 129044262 intron variant G/C snv 9.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs10036748
rs10036748
TNIP1
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2233287
rs2233287
TNIP1
2 0.925 0.160 5 151060536 intron variant G/A snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs3792783
rs3792783
TNIP1
3 0.882 0.280 5 151076171 intron variant A/G snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs4958880
rs4958880
TNIP1
4 0.851 0.160 5 151058916 intron variant C/A;G snv 0.700 1.000 1 2019 2019