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: rs1217412
rs1217412
PTPN22 ; AP4B1-AS1
1.000 0.120 1 113814589 3 prime UTR variant G/A snv 0.78
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2007 2007
dbSNP: rs1217414
rs1217414
PTPN22 ; AP4B1-AS1
0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 1.000 1 2008 2008
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: rs1217419
rs1217419
PTPN22 ; AP4B1-AS1
1.000 0.120 1 113859282 intron variant T/G snv 0.56
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2014 2014
dbSNP: rs12730735
rs12730735
PTPN22 ; AP4B1-AS1
1.000 0.040 1 113838835 intron variant T/C snv 0.21
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 1.000 1 2011 2011
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: rs1450261764
rs1450261764
PTPN22 ; AP4B1-AS1
1.000 0.120 1 113856592 missense variant G/T snv 7.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		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: 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: 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: 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: 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: 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: C0265514
Disease: Dermatofibrosis lenticularis disseminata
Dermatofibrosis lenticularis disseminata 		0.010 1.000 1 2018 2018
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: 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: 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: 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: 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: 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: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		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: 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: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.010 1.000 1 2012 2012