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: rs1217406
rs1217406
PTPN22 ; AP4B1-AS1
1.000 0.080 1 113850531 intron variant A/C snv 0.56
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2014 2014
dbSNP: rs771284583
rs771284583
PTPN22 ; AP4B1-AS1
1.000 0.080 1 113838618 missense variant A/C snv
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		0.010 1.000 1 2013 2013
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: rs1310182
rs1310182
PTPN22 ; AP4B1-AS1
0.882 0.360 1 113830881 intron variant A/C;G snv 0.56
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 < 0.001 1 2010 2010
dbSNP: rs1310182
rs1310182
PTPN22 ; AP4B1-AS1
0.882 0.360 1 113830881 intron variant A/C;G snv 0.56
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 < 0.001 1 2012 2012
dbSNP: rs1310182
rs1310182
PTPN22 ; AP4B1-AS1
0.882 0.360 1 113830881 intron variant A/C;G snv 0.56
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 < 0.001 1 2012 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.900 0.980 101 2005 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 0.877 81 2005 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		1.000 0.950 80 2004 2020
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.900 0.972 36 2004 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.900 0.857 14 2005 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.860 0.900 10 2005 2018
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.860 0.800 10 2005 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.090 0.889 9 2005 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.760 0.857 7 2006 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.060 0.833 6 2005 2018
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.850 0.667 6 2006 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.740 0.800 5 2008 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
Juvenile rheumatoid arthritis 		0.050 1.000 5 2005 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.740 1.000 5 2008 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.050 0.600 5 2005 2016
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: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.040 0.750 4 2009 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.730 1.000 4 2011 2016
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