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: rs2893321
rs2893321
TNFSF13B
3 0.882 0.200 13 108290686 intron variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.010 1.000 1 2010 2010
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 1.000 5 2008 2015
dbSNP: rs11575936
rs11575936
IFNGR1
4 0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs7749323
rs7749323 		2 0.925 0.200 6 137909252 intergenic variant G/A snv 3.3E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs17209237
rs17209237
NR3C1
1 1.000 0.120 5 143277647 downstream gene variant A/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1422673
rs1422673
TNIP1
2 0.925 0.160 5 151059427 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2233287
rs2233287
TNIP1
2 0.925 0.160 5 151060536 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs4958881
rs4958881
TNIP1
7 0.827 0.280 5 151070675 intron variant T/C snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs3792785
rs3792785
TNIP1
1 1.000 0.120 5 151072089 intron variant T/C snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs3792783
rs3792783
TNIP1
3 0.882 0.280 5 151076171 intron variant A/G snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs3753381
rs3753381
SLAMF1
1 1.000 0.120 1 160629620 intron variant G/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs8058694
rs8058694
ABCC6
1 1.000 0.120 16 16185006 missense variant G/T snv 0.42 0.43 0.010 1.000 1 2017 2017
dbSNP: rs8058696
rs8058696
ABCC6
1 1.000 0.120 16 16185012 synonymous variant G/C;T snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs16862847
rs16862847
CHRNA1
1 1.000 0.120 2 174764872 intron variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs564353179
rs564353179
TTN ; LOC101927055
1 1.000 0.120 2 178780121 missense variant C/G snv 9.6E-05 9.1E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs231770
rs231770 		1 1.000 0.120 2 203864430 upstream gene variant C/T snv 0.42 0.700 1.000 1 2015 2015
dbSNP: rs733618
rs733618
CTLA4
12 0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10 0.030 0.667 3 2017 2019
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 0.500 2 2018 2019
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.020 0.500 2 2018 2019
dbSNP: rs9963862
rs9963862
RBBP8
1 1.000 0.120 18 23007948 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1126407
rs1126407
LGALS8 ; LOC107985367
3 0.925 0.200 1 236537507 missense variant T/A snv 0.61 0.61 0.010 1.000 1 2012 2012
dbSNP: rs2737713
rs2737713
LGALS8 ; LOC107985367
2 1.000 0.120 1 236537507 missense variant T/A snv 0.010 1.000 1 2012 2012