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: rs1003878
rs1003878
TSBP1 ; TSBP1-AS1
3 0.882 0.200 6 32332045 stop gained G/A snv 0.19 0.23 0.700 1.000 3 2007 2011
dbSNP: rs1003879
rs1003879
TSBP1 ; TSBP1-AS1
1 1.000 0.120 6 32331815 intron variant G/A snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs1004819
rs1004819
IL23R ; C1orf141
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1005133
rs1005133 		1 1.000 0.120 22 19750832 intergenic variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs1005753
rs1005753
PADI2
1 1.000 0.120 1 17118274 intron variant G/T snv 0.55 0.010 1.000 1 2012 2012
dbSNP: rs10088748
rs10088748
SGCZ
1 1.000 0.120 8 14611016 intron variant C/A snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs10097964
rs10097964 		1 1.000 0.120 8 21125392 intron variant G/A snv 2.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs10106
rs10106
FPGS
4 0.851 0.200 9 127813796 3 prime UTR variant T/C snv 0.45 0.020 1.000 2 2017 2020
dbSNP: rs10168266
rs10168266
STAT4
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.700 1.000 2 2012 2012
dbSNP: rs10174098
rs10174098
ITGAV
3 0.882 0.200 2 186628015 intron variant G/A snv 0.62 0.010 < 0.001 1 2014 2014
dbSNP: rs10174238
rs10174238
STAT4
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs10175798
rs10175798 		1 1.000 0.120 2 30226728 upstream gene variant G/A snv 0.51 0.800 1.000 2 2014 2019
dbSNP: rs10181656
rs10181656
STAT4
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.820 1.000 3 2012 2017
dbSNP: rs1018430
rs1018430
TSBP1 ; TSBP1-AS1
1 1.000 0.120 6 32313911 intron variant C/T snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs1018431
rs1018431
TSBP1 ; TSBP1-AS1
1 1.000 0.120 6 32313899 intron variant G/A snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs1018433
rs1018433
TSBP1 ; TSBP1-AS1
1 1.000 0.120 6 32313733 intron variant A/T snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs1018434
rs1018434
TSBP1 ; TSBP1-AS1
1 1.000 0.120 6 32313583 intron variant T/C snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs10203477
rs10203477
LINC01185
2 0.925 0.200 2 60877850 intron variant A/T snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs10209110
rs10209110
AFF3
1 1.000 0.120 2 100056230 intron variant C/T snv 0.47 0.800 1.000 1 2012 2012
dbSNP: rs102275
rs102275
TMEM258
18 0.827 0.320 11 61790331 non coding transcript exon variant T/C snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs10263447
rs10263447
NPSR1 ; NPSR1-AS1
1 1.000 0.120 7 34820377 intron variant G/C snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs10275421
rs10275421
LNCPRESS1
1 1.000 0.120 7 101299780 non coding transcript exon variant G/A snv 7.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs1033500
rs1033500
TSBP1 ; TSBP1-AS1
2 1.000 0.120 6 32339605 missense variant G/A snv 0.40 0.33 0.700 1.000 3 2007 2011
dbSNP: rs1034323
rs1034323 		1 1.000 0.120 6 30400858 intergenic variant C/T snv 0.43 0.700 1.000 2 2007 2009