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: rs3761389
rs3761389
AIRE
1 1.000 0.120 21 44285055 upstream gene variant G/A snv 0.14 0.020 1.000 2 2017 2017
dbSNP: rs111945767
rs111945767 		1 1.000 0.120 6 32549268 downstream gene variant G/C snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs11466316
rs11466316
TGFB1
1 1.000 0.120 19 41353431 5 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12653117
rs12653117
SEMA5A
1 1.000 0.120 5 9386473 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs150881176
rs150881176
HLA-A
1 1.000 0.120 6 29979963 downstream gene variant T/C snv 0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: rs4263037
rs4263037
TNFRSF11A
1 1.000 0.120 18 62349000 intron variant G/A snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs4361859
rs4361859 		1 1.000 0.120 9 97062415 regulatory region variant G/A snv 0.77 0.010 1.000 1 2007 2007
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: rs6998967
rs6998967
LOC105375922
1 1.000 0.120 8 80451970 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
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: rs9963862
rs9963862
RBBP8
1 1.000 0.120 18 23007948 intron variant G/A;C snv 0.700 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: rs2071591
rs2071591
ATP6V1G2 ; NFKBIL1 ; ATP6V1G2-DDX39B
2 0.925 0.160 6 31548022 intron variant G/A;C snv 0.700 1.000 1 2016 2016
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: rs2737713
rs2737713
LGALS8 ; LOC107985367
2 1.000 0.120 1 236537507 missense variant T/A snv 0.010 1.000 1 2012 2012
dbSNP: rs4678
rs4678
VARS2
2 0.925 0.200 6 30926164 missense variant G/A snv 0.14 0.15 0.700 1.000 1 2012 2012
dbSNP: rs6679356
rs6679356
IL12RB2
2 0.925 0.200 1 67354511 intron variant C/T snv 0.75 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: rs886403
rs886403
MUC21
2 0.925 0.160 6 30989841 3 prime UTR variant T/C snv 0.23 0.700 1.000 1 2012 2012