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rs8192917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
Make rs8192917(A;G)
Make rs8192917(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24632954
GeneGZMB
is asnp
is mentioned by
dbSNPrs8192917
ebirs8192917
HLIrs8192917
Exacrs8192917
Varsomers8192917
Maprs8192917
PheGenIrs8192917
hapmaprs8192917
1000 genomesrs8192917
hgdprs8192917
ensemblrs8192917
gopubmedrs8192917
geneviewrs8192917
scholarrs8192917
googlers8192917
pharmgkbrs8192917
gwascentralrs8192917
openSNPrs8192917
23andMers8192917
23andMe allrs8192917
SNP Nexus

SNPshotrs8192917
SNPdbers8192917
MSV3drs8192917
GWAS Ctlgrs8192917
GMAF0.2851
Max Magnitude0
? (A;A) (A;G) (G;G) 28
GWAS snp
PMID [PMID 20410501OA-icon.png]
Trait Vitiligo
Title Variant of TYR and Autoimmunity Susceptibility Loci in Generalized Vitiligo
Risk Allele G
P-val 3E-8
Odds Ratio 1.28 [1.17-1.39]


[PMID 21886827OA-icon.png] Genetic Variants of Human Granzyme B Predict Transplant Outcomes after HLA Matched Unrelated Bone Marrow Transplantation for Myeloid Malignancies


[PMID 18311812OA-icon.png] Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis.


GET Evidence
GZMB-R55Q
aa_change Arg55Gln
aa_change_short R55Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.702361
summary



[PMID 23528102] Association between granzyme B and perforin I polymorphisms and allograft outcomes in Hispanic kidney transplant recipients


[PMID 23321921OA-icon.png] Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B).