Source: ALL

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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1321756
Disease: Achalasia
Achalasia 		0.010 1.000 1 2007 2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		0.020 1.000 2 2012 2013
dbSNP: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		0.010 1.000 1 2013 2013
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0001403
Disease: Addison Disease
Addison Disease 		0.020 1.000 2 2005 2012
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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		0.010 1.000 1 2007 2007
dbSNP: rs1310182
rs1310182
PTPN22 ; AP4B1-AS1
0.882 0.360 1 113830881 intron variant A/C;G snv 0.56
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.020 1.000 2 2016 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0002170
Disease: Alopecia
Alopecia 		0.040 1.000 4 2006 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		0.740 1.000 5 2006 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0263505
Disease: Alopecia universalis
Alopecia universalis 		0.010 1.000 1 2014 2014
dbSNP: rs1217414
rs1217414
PTPN22 ; AP4B1-AS1
0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.020 1.000 2 2014 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.710 1.000 2 2016 2017
dbSNP: rs1217418
rs1217418
PTPN22 ; AP4B1-AS1
0.925 0.120 1 113858609 intron variant A/G snv 0.53 0.57
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 1.000 1 2014 2014
dbSNP: rs2488457
rs2488457
PTPN22 ; AP4B1-AS1
0.763 0.480 1 113872746 intron variant G/A;C snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 1.000 1 2017 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0042165
Disease: Anterior uveitis
Anterior uveitis 		0.010 1.000 1 2013 2013
dbSNP: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0042165
Disease: Anterior uveitis
Anterior uveitis 		0.010 1.000 1 2013 2013
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C2717865
Disease: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis 		0.020 1.000 2 2012 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2007 2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 1.000 1 2019 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.020 0.500 2 2006 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2011 2011
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2007 2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.010 1.000 1 2017 2017
dbSNP: rs2488458
rs2488458
PTPN22 ; AP4B1-AS1
0.925 0.080 1 113863829 intron variant T/A;C snv
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.010 1.000 1 2016 2016