Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.740 GeneticVariation BEFREE This meta-analysis shows a significant association between PTPN22 R620W polymorphism and MG risk. 26318187

2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.740 GeneticVariation BEFREE DNA samples from 416 patients with clinically diagnosed generalized MG (231 with Abs to acetylcholine receptor, AChR-MG), 53 with Abs to muscle-specific kinase (MuSK-MG), 55 patients with no detectable Abs (SN-MG), 77 patients with thymoma (TAMG) and 293 healthy controls (HC) were genotyped for the SNP (PTPN22 R620W, C1858T, rs2476601). 25119822

2014
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		A 0.740 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.740 GeneticVariation BEFREE We conclude that the common autoimmune polymorphism PTPN22 1858C/T may account for disease susceptibility in a subset of nonthymoma MG patients with anti-titin antibodies present. 19406179

2009
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.740 GeneticVariation BEFREE PTPN22 R620W promotes production of anti-AChR autoantibodies and IL-2 in myasthenia gravis. 18533277

2008
dbSNP: rs111945767
rs111945767
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations. 26562150

2016
dbSNP: rs11229
rs11229
PRRC2A
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs1235162
rs1235162
GABBR1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs1265159
rs1265159
POU5F1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs12653117
rs12653117
SEMA5A
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		T 0.700 GeneticVariation GWASCAT Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations. 26562150

2016
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs1422673
rs1422673
TNIP1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs150881176
rs150881176
HLA-A
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASCAT Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations. 26562150

2016
dbSNP: rs1634718
rs1634718
MUC22
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs1794282
rs1794282
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs1980493
rs1980493
BTNL2 ; TSBP1-AS1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs204990
rs204990
GPSM3
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs2071591
rs2071591
ATP6V1G2 ; NFKBIL1 ; ATP6V1G2-DDX39B
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASCAT Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations. 26562150

2016
dbSNP: rs2187668
rs2187668
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs2233287
rs2233287
TNIP1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs2233956
rs2233956
C6orf15 ; PSORS1C1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs231770
rs231770
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		T 0.700 GeneticVariation GWASCAT A genome-wide association study of myasthenia gravis. 25643325

2015
dbSNP: rs2516400
rs2516400
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs2517598
rs2517598
TRIM31 ; TRIM31-AS1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012
dbSNP: rs2523987
rs2523987
TRIM31 ; TRIM31-AS1
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012