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: C3277701
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 		0.700 0
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0409651
Disease: Seropositive rheumatoid arthritis
Seropositive rheumatoid arthritis 		0.010 1.000 1 2005 2005
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.010 < 0.001 1 2005 2005
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2006 2006
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism 		0.010 1.000 1 2006 2006
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.010 1.000 1 2006 2006
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: 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: C0014848
Disease: Esophageal Achalasia
Esophageal 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: 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: C0018799
Disease: Heart Diseases
Heart Diseases 		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: C0041234
Disease: Chagas Disease
Chagas Disease 		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: C0155877
Disease: Allergic asthma
Allergic asthma 		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: C1304470
Disease: Generalized vitiligo
Generalized vitiligo 		0.030 1.000 3 2005 2008
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		0.020 1.000 2 2008 2008
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.010 1.000 1 2008 2008
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder 		0.010 1.000 1 2008 2008
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2008 2008
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune 		0.020 1.000 2 2008 2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C2103602
Disease: Autoimmune Primary Adrenal Insufficiency
Autoimmune Primary Adrenal Insufficiency 		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: C0006309
Disease: Brucellosis
Brucellosis 		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: 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: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		0.020 1.000 2 2005 2010
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C3899278
Disease: Early Rheumatoid Arthritis
Early Rheumatoid Arthritis 		0.030 1.000 3 2006 2011
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2011 2011