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: C0947912
Disease: Myasthenias
Myasthenias 		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: C0011880
Disease: Diabetic Ketoacidosis
Diabetic Ketoacidosis 		0.010 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: C0021400
Disease: Influenza
Influenza 		0.010 < 0.001 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: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		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: C0022638
Disease: Ketosis
Ketosis 		0.010 1.000 1 2014 2014
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
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.010 1.000 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: 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: C0040100
Disease: Thymoma
Thymoma 		0.010 1.000 1 2014 2014
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		0.010 1.000 1 2014 2014
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: C0263338
Disease: Chronic urticaria
Chronic urticaria 		0.010 1.000 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: 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: 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: 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: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		0.010 < 0.001 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: C0263505
Disease: Alopecia universalis
Alopecia universalis 		0.010 1.000 1 2014 2014
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: 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: 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: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		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: 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: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		0.010 1.000 1 2017 2017