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: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2018 2018
dbSNP: rs190589393
rs190589393
KIR2DS4 ; KIR3DL1 ; KIR3DS1
2 0.925 0.080 19 54818487 missense variant C/A snv 1.7E-05 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs199473565
rs199473565
SCN5A
3 0.882 0.120 3 38606743 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs2070150
rs2070150
ATF6
6 0.827 0.280 1 161791486 missense variant G/C snv 0.14 9.2E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs2072906
rs2072906
PNPLA3
4 0.851 0.160 22 43937292 intron variant A/G snv 0.25 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2221903
rs2221903
IL21 ; IL21-AS1
12 0.752 0.360 4 122617757 intron variant C/T snv 0.77 0.010 1.000 1 2018 2018
dbSNP: rs2233682
rs2233682
PIN1
5 0.827 0.240 19 9838476 synonymous variant G/A snv 3.7E-02 6.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2242652
rs2242652
TERT
16 0.724 0.400 5 1279913 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2274567
rs2274567
CR1
10 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 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 2018 2018
dbSNP: rs2280883
rs2280883
FOXP3
9 0.827 0.280 X 49252667 intron variant T/C snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs2284553
rs2284553
IFNGR2
9 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs2293152
rs2293152
STAT3
10 0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs2308557
rs2308557
HLA-B ; HLA-C
1 1.000 0.080 6 31271640 missense variant C/A;G;T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs2517459
rs2517459 		6 0.882 0.160 6 30929245 downstream gene variant T/C snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs2532932
rs2532932 		2 0.925 0.160 6 30927667 downstream gene variant A/G snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2017 2017
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 < 0.001 1 2017 2017
dbSNP: rs2853744
rs2853744
SPP1
4 0.882 0.200 4 87975096 non coding transcript exon variant G/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs2856718
rs2856718 		8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs303218
rs303218
IFIT1 ; LIPA
1 1.000 0.080 10 89392836 intron variant G/A snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs35875104
rs35875104
CYP21A2 ; EHMT2
1 1.000 0.080 6 31888517 intron variant T/C snv 3.0E-02 3.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs368234815
rs368234815
IFNL4
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2018 2018
dbSNP: rs3747206
rs3747206
PNPLA3
3 0.882 0.160 22 43928850 synonymous variant C/T snv 0.010 1.000 1 2015 2015