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rs5911

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 1 Heterozygous for BAK platelet-specific alloantigen
(C;C) 1.5 BAK platelet-specific alloantigen
ReferenceGRCh38 38.1/141
Chromosome17
Position44375697
GeneITGA2B
is asnp
is mentioned by
dbSNPrs5911
ebirs5911
HLIrs5911
Exacrs5911
Varsomers5911
Maprs5911
PheGenIrs5911
hapmaprs5911
1000 genomesrs5911
hgdprs5911
ensemblrs5911
gopubmedrs5911
geneviewrs5911
scholarrs5911
googlers5911
pharmgkbrs5911
gwascentralrs5911
openSNPrs5911
23andMers5911
23andMe allrs5911
SNP Nexus

SNPshotrs5911
SNPdbers5911
MSV3drs5911
GWAS Ctlgrs5911
GMAF0.4045
Max Magnitude1.5

rs5911, also known as Ile874Ser or Ile843Ser, is a SNP in the ITGA2B gene on chromosome 17. In the context of the plus strand nomenclature used by dbSNP, rs5911(A) encodes the Ile, and rs5911(G) the Ser. The rs5911(C) allele gives rise to the platelet-specific alloantigen known as BAK.

Of some historic interest in the field of platelet transfusion, the BAK alloantigen (rs5911(C;C) homozygotes) has more recently been reported in a small study of healthy Chinese males to be associated with decreased ex vivo antiplatelet activity of ticagrelor.[PMID 24474638]

? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene ITGA2B
allele C
frequency 0.297
sift TOLERATED
HuRef 1103645329870
Disease Association Defects in ITGA2B are a cause of Glanzmann thrombasthenia (GT) (MIM:273800); also known as thrombasthenia of Glanzmann and Naegeli. This autosomal recessive disorder is the most common inherited disease of platelets. GT is characterized by mucocutaneous bleeding of mild-to-moderate severity and the inability of this integrin to recognize macromolecular or synthetic peptide ligands.



OMIM607759
Desc
Variant0004
Relatedalso


ClinVar
Risk rs5911(C;C)
Alt rs5911(C;C)
Reference rs5911(A;A)
Significance Other
Disease BAK PLATELET-SPECIFIC ANTIGEN
Variation info
Gene ITGA2B
CLNDBN BAK PLATELET-SPECIFIC ANTIGEN
Reversed 0
HGVS NC_000017.10:g.42453065A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003025.2,



GET Evidence
ITGA2B-I874S
aa_change Ile874Ser
aa_change_short I874S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.379664
summary



[PMID 26495016OA-icon.png] The Effect of Xuefuzhuyu Oral Liquid on Aspirin Resistance and Its Association with rs5911, rs5787, and rs3842788 Gene Polymorphisms