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: rs3789607
rs3789607
PTPN22 ; AP4B1-AS1
1 113823812 intron variant T/C snv 0.21
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 1.000 1 2010 2010
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: rs3765598
rs3765598
PTPN22 ; AP4B1-AS1
1.000 0.080 1 113851841 intron variant C/T snv 0.15
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2013 2016
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: 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
dbSNP: rs2488458
rs2488458
PTPN22 ; AP4B1-AS1
0.925 0.080 1 113863829 intron variant T/A;C snv
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		0.010 1.000 1 2016 2016
dbSNP: rs3789609
rs3789609
PTPN22 ; AP4B1-AS1
1.000 0.080 1 113855177 intron variant C/T snv 0.21
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2014 2014
dbSNP: rs3811021
rs3811021
PTPN22 ; RSBN1 ; AP4B1-AS1
1.000 0.080 1 113814041 3 prime UTR variant A/G snv 0.15
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2016 2016
dbSNP: rs3811021
rs3811021
PTPN22 ; RSBN1 ; AP4B1-AS1
1.000 0.080 1 113814041 3 prime UTR variant A/G snv 0.15
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 1.000 1 2010 2010
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: rs974404
rs974404
PTPN22 ; AP4B1-AS1
1.000 0.080 1 113839403 intron variant G/A;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2016 2016
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: rs1217414
rs1217414
PTPN22 ; AP4B1-AS1
0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2013 2016
dbSNP: rs1217407
rs1217407
PTPN22 ; AP4B1-AS1
1.000 0.120 1 113851126 intron variant A/G snv 0.77
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2009 2009
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: rs1217413
rs1217413
PTPN22 ; AP4B1-AS1
1.000 0.120 1 113815128 intron variant G/A snv 0.82
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.700 1.000 1 2009 2009
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: 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: rs56048322
rs56048322
PTPN22 ; AP4B1-AS1
1.000 0.120 1 113829592 missense variant C/G snv 5.8E-03 5.9E-03
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2016 2016
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