Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12150220
rs12150220
NLRP1
0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.020 1.000 2 2010 2017
dbSNP: rs1990760
rs1990760
IFIH1
0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.020 0.500 2 2013 2013
dbSNP: rs10931481
rs10931481
STAT4
0.827 0.240 2 191090126 intron variant G/A snv 0.66
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2014 2014
dbSNP: rs13422767
rs13422767
FAP
0.882 0.120 2 162243749 intron variant G/A snv 0.14
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2013 2013
dbSNP: rs1896286
rs1896286 		0.925 0.080 2 203967715 intergenic variant G/T snv 0.49
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2015 2015
dbSNP: rs2104286
rs2104286
IL2RA
0.662 0.440 10 6057082 intron variant T/C snv 0.18
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2015 2015
dbSNP: rs2111485
rs2111485 		0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2013 2013
dbSNP: rs231726
rs231726 		0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2015 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2009 2009
dbSNP: rs3118470
rs3118470
IL2RA
0.752 0.360 10 6059750 intron variant T/A;C snv
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2015 2015
dbSNP: rs3136534
rs3136534 		0.807 0.240 4 122448621 downstream gene variant T/G snv 0.29
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2015 2015
dbSNP: rs3757247
rs3757247
BACH2
0.827 0.320 6 90247744 intron variant C/T snv 0.38
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2016 2016
dbSNP: rs3827440
rs3827440
GPR174 ; LOC107985690
0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2015 2015
dbSNP: rs4274624
rs4274624
STAT4
0.925 0.080 2 191093930 intron variant C/G;T snv
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2014 2014
dbSNP: rs6473
rs6473
CYP21A2 ; TNXB
0.851 0.160 6 32041127 missense variant G/A;C snv 3.7E-04; 8.4E-06
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2014 2014
dbSNP: rs6822844
rs6822844 		0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2015 2015
dbSNP: rs763361
rs763361
CD226
0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		0.010 1.000 1 2011 2011