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: rs121434254
rs121434254
AIRE
6 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2001 2001
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2005 2005
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2006 2017
dbSNP: rs231725
rs231725 		4 0.851 0.240 2 203875952 downstream gene variant G/A snv 0.38 0.070 1.000 7 2008 2017
dbSNP: rs1149222
rs1149222
ABCB4
1 1.000 0.080 7 87444459 intron variant G/T snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs1799971
rs1799971
OPRM1
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2008 2008
dbSNP: rs31672
rs31672
ABCB4
1 1.000 0.080 7 87430383 intron variant C/T snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs10488631
rs10488631
TNPO3
13 0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02 0.800 1.000 5 2009 2015
dbSNP: rs3790567
rs3790567
IL12RB2
4 0.851 0.240 1 67356694 intron variant A/G snv 0.61 0.800 1.000 2 2009 2010
dbSNP: rs6441286
rs6441286
IL12A-AS1
2 0.925 0.080 3 160011091 intron variant T/G snv 0.36 0.800 1.000 2 2009 2010
dbSNP: rs17268364
rs17268364 		2 0.925 0.200 2 203913095 intergenic variant G/A snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs2395148
rs2395148
TSBP1 ; TSBP1-AS1
3 0.882 0.200 6 32353777 intron variant G/T snv 4.6E-02 0.800 1.000 1 2009 2009
dbSNP: rs2856683
rs2856683 		5 0.827 0.320 6 32687441 regulatory region variant T/A;C;G snv 0.25 0.800 1.000 1 2009 2009
dbSNP: rs3135363
rs3135363 		8 0.776 0.360 6 32421871 intergenic variant A/G snv 0.24 0.800 1.000 1 2009 2009
dbSNP: rs3793336
rs3793336
SLC4A2
1 1.000 0.080 7 151065784 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs4679904
rs4679904 		2 0.925 0.080 3 160623108 intergenic variant C/G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs9357152
rs9357152 		5 0.827 0.240 6 32697183 regulatory region variant A/G snv 0.24 0.800 1.000 1 2009 2009
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.050 1.000 5 2010 2017
dbSNP: rs9303277
rs9303277
IKZF3
9 0.790 0.240 17 39820216 intron variant C/T snv 0.52 0.800 1.000 5 2010 2017
dbSNP: rs7774434
rs7774434 		6 0.807 0.360 6 32689801 TF binding site variant T/C snv 0.40 0.800 1.000 4 2010 2015
dbSNP: rs3745516
rs3745516
SPIB
2 0.925 0.080 19 50423485 intron variant A/G snv 0.62 0.800 1.000 3 2010 2015
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.020 1.000 2 2010 2017
dbSNP: rs17139244
rs17139244
RBFOX1
1 1.000 0.080 16 6055212 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6500742
rs6500742
RBFOX1
1 1.000 0.080 16 6059220 non coding transcript exon variant T/C snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs2293370
rs2293370
TIMMDC1
3 0.882 0.160 3 119501087 intron variant G/A snv 0.18 0.810 1.000 7 2011 2019