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: rs3789129
rs3789129
ACOXL
1 1.000 0.040 2 110940463 intron variant A/C snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs4738296
rs4738296
KCNB2
1 1.000 0.040 8 72945304 upstream gene variant A/C snv 7.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs848
rs848
IL13 ; TH2LCRR
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.700 1.000 1 2015 2015
dbSNP: rs6848139
rs6848139 		3 1.000 0.040 4 122473886 intergenic variant A/C;G snv 0.700 1.000 1 2015 2015
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 2006 2019
dbSNP: rs111238176
rs111238176
FASLG
4 0.851 0.160 1 172665840 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2216164
rs2216164
IFNG-AS1
1 1.000 0.040 12 68140560 intron variant A/G snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs2395157
rs2395157
TSBP1-AS1
5 0.827 0.240 6 32380368 intron variant A/G snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs485774
rs485774
TSBP1 ; TSBP1-AS1
3 0.925 0.120 6 32323177 intron variant A/G snv 0.42 0.33 0.700 1.000 1 2012 2012
dbSNP: rs574087
rs574087
LOC102723878
1 1.000 0.040 11 64335476 upstream gene variant A/G snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs694739
rs694739
LOC102723878
9 0.763 0.320 11 64329761 upstream gene variant A/G snv 0.28 0.800 1.000 1 2010 2010
dbSNP: rs9268528
rs9268528 		4 0.851 0.280 6 32415331 regulatory region variant A/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs9275572
rs9275572 		15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.800 1.000 2 2010 2012
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs17031716
rs17031716
MAGI3
1 1.000 0.040 1 113609225 intron variant C/A snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs3099844
rs3099844
MICB-DT
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs6906608
rs6906608
IRF4
1 1.000 0.040 6 411554 downstream gene variant C/A snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1800520
rs1800520
AIRE
5 0.851 0.200 21 44290023 missense variant C/A;G;T snv 0.14; 8.3E-06 0.010 1.000 1 2006 2006
dbSNP: rs6457452
rs6457452
HSPA1B
4 0.851 0.200 6 31827773 5 prime UTR variant C/G;T snv 8.5E-05; 9.3E-02; 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs10760706
rs10760706
STX17
1 1.000 0.040 9 99961410 intron variant C/T snv 0.69 0.800 1.000 1 2010 2010
dbSNP: rs2847266
rs2847266 		1 1.000 0.040 18 12773339 intron variant C/T snv 0.69 0.700 1.000 1 2015 2015
dbSNP: rs3099624
rs3099624 		1 1.000 0.040 1 11436937 intergenic variant C/T snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs3115553
rs3115553
TSBP1-AS1
4 0.851 0.200 6 32278050 intron variant C/T snv 0.25 0.700 1.000 1 2012 2012