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: rs2234167
rs2234167
TNFRSF14
1 1.000 0.040 1 2562891 missense variant G/A snv 0.13 0.12 0.700 1.000 1 2019 2019
dbSNP: rs1032129
rs1032129
TNFRSF11B
5 0.851 0.040 8 118939661 intron variant A/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs12492609
rs12492609
TMEM39A
3 0.882 0.040 3 119435715 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs7629750
rs7629750
TMEM39A
3 0.882 0.040 3 119455829 intron variant A/G snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs5865
rs5865
TMEM131
5 0.851 0.040 2 97756543 3 prime UTR variant C/T snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs939348
rs939348
THRA
5 0.851 0.240 17 40075600 intron variant T/C;G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs370991693
rs370991693
TG ; LOC105375768
4 0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 0.020 1.000 2 2008 2009
dbSNP: rs121912648
rs121912648
TG
2 0.925 0.040 8 132882609 stop gained C/T snv 3.6E-04 4.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs1810396
rs1810396
TG
1 1.000 0.040 8 132906524 intron variant A/G snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs2076738
rs2076738
TG
6 0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs142698837
rs142698837
TG
5 0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04 0.700 0
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10930013
rs10930013
TANK
2 1.000 0.040 2 161213814 intron variant G/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs7596240
rs7596240
STK25
1 1.000 0.040 2 241504758 intron variant A/G snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs7582694
rs7582694
STAT4
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs587777630
rs587777630
STAT1
16 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
dbSNP: rs9507287
rs9507287
SPATA13
5 0.851 0.040 13 24212439 intron variant T/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs9511143
rs9511143
SPATA13
1 1.000 0.040 13 24200509 intron variant C/T snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs148383040
rs148383040
SLC8A1 ; SLC8A1-AS1
1 1.000 0.040 2 40170319 missense variant C/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs539699299
rs539699299
SLC26A4 ; SLC26A4-AS1
4 0.851 0.160 7 107661725 missense variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs111033199
rs111033199
SLC26A4
3 0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs10866828
rs10866828
SLC25A37
1 1.000 0.040 8 23544021 intron variant C/T snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs17606253
rs17606253
SLC16A10
1 1.000 0.040 6 111205242 intron variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs371443644
rs371443644
SLC12A3
2 0.925 0.160 16 56865414 missense variant C/T snv 5.6E-05 4.2E-05 0.010 1.000 1 2009 2009