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: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1053004
rs1053004
STAT3
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.020 1.000 2 2015 2017
dbSNP: rs1056744559
rs1056744559
TLR4
1 1.000 0.080 9 117713974 stop gained C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1061624
rs1061624
TNFRSF1B
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs10853728
rs10853728 		5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs117648444
rs117648444
IFNL4
3 0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs11977021
rs11977021 		5 0.827 0.240 7 106288069 upstream gene variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs12508721
rs12508721
IL21-AS1
11 0.742 0.360 4 122623509 intron variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs1265163
rs1265163
POU5F1 ; TCF19
1 1.000 0.080 6 31166310 missense variant C/G;T snv 0.14; 7.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.040 1.000 4 2013 2019
dbSNP: rs13419896
rs13419896
EPAS1
8 0.776 0.240 2 46329206 intron variant G/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1419881
rs1419881
TCF19
4 0.851 0.280 6 31162816 3 prime UTR variant G/A snv 0.50 0.020 1.000 2 2013 2017
dbSNP: rs142346548
rs142346548
IFNL3
2 0.925 0.160 19 39244145 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs171941
rs171941
LOC105379048
1 1.000 0.080 5 79884303 intergenic variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17401966
rs17401966
KIF1B
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs17408553
rs17408553
HLA-B ; HLA-C
2 0.925 0.080 6 31271630 missense variant G/A;T snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs179009
rs179009
TLR7
2 0.925 0.160 X 12885361 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs1800472
rs1800472
TGFB1
11 0.752 0.360 19 41341955 missense variant G/A snv 2.6E-02 2.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1805011
rs1805011
IL4R
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.010 1.000 1 2018 2018