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: rs1518364
rs1518364
PLCL1
3 0.925 0.120 2 197945251 intron variant G/A snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs17000730
rs17000730
TYK2
3 0.882 0.120 19 10380572 5 prime UTR variant T/C snv 5.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs280501
rs280501
TYK2
3 0.882 0.120 19 10380646 upstream gene variant C/T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs3750716
rs3750716
CPN1
2 0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03 0.710 1.000 1 2016 2016
dbSNP: rs7572733
rs7572733
PLCL1
4 0.925 0.120 2 198065082 intron variant C/T snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs7750458
rs7750458
HLA-DPA1 ; HLA-DPB1
2 0.925 0.120 6 33077921 intron variant G/A snv 9.5E-02 0.710 1.000 1 2016 2016
dbSNP: rs938929
rs938929
PLCL1
3 0.925 0.120 2 197916136 intron variant A/G snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs9500928
rs9500928
HLA-DPA1 ; HLA-DPB1
2 0.925 0.120 6 33081917 intron variant C/T snv 4.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs9986765
rs9986765
PIP
3 0.925 0.120 7 143138146 intron variant A/G snv 0.12 0.710 1.000 1 2016 2016
dbSNP: rs2492358
rs2492358 		5 0.851 0.160 9 34737831 intron variant C/T snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs3129843
rs3129843 		5 0.827 0.160 6 32427949 intergenic variant A/G snv 6.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs10814916
rs10814916
GLIS3
7 0.851 0.200 9 4293150 intron variant A/C snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs6738825
rs6738825
PLCL1
5 0.851 0.200 2 198032171 intron variant A/G snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs9501251
rs9501251
HLA-DPA1 ; HLA-DPB1
3 0.882 0.200 6 33081886 intron variant A/G snv 4.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs951005
rs951005 		10 0.807 0.200 9 34743684 intron variant G/A snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs10758593
rs10758593
GLIS3
8 0.827 0.240 9 4292083 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs1800451
rs1800451
MBL2
9 0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs11171739
rs11171739
ERBB3
10 0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs280519
rs280519
TYK2
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs3733197
rs3733197
BANK1
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2019 2019
dbSNP: rs7812879
rs7812879 		6 0.807 0.320 8 11482672 upstream gene variant T/A;C snv 0.010 1.000 1 2015 2015
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 2017 2017
dbSNP: rs5030737
rs5030737
MBL2
11 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs5029939
rs5029939
TNFAIP3
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2014 2014