rs5911

plus

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

Reference

GRCh38 38.1/141

Chromosome

17

Position

44375697

Gene

ITGA2B

is a	snp
is	mentioned by
dbSNP	rs5911
dbSNP (classic)	rs5911
ClinGen	rs5911
ebi	rs5911
HLI	rs5911
Exac	rs5911
Gnomad	rs5911
Varsome	rs5911
LitVar	rs5911
Map	rs5911
PheGenI	rs5911
Biobank	rs5911
1000 genomes	rs5911
hgdp	rs5911
ensembl	rs5911
geneview	rs5911
scholar	rs5911
google	rs5911
pharmgkb	rs5911
gwascentral	rs5911
openSNP	rs5911
23andMe	rs5911
SNPshot	rs5911
SNPdbe	rs5911
MSV3d	rs5911
GWAS Ctlg	rs5911

GMAF

0.4045

Max Magnitude

1.5

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

OMIM	607759
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs5911(C;C)
Alt	Rs5911(C;C)
Reference	Rs5911(A;A)
Significance	Other
Disease	BAK PLATELET-SPECIFIC ANTIGEN not specified Glanzmann thrombasthenia
Variation	info
Gene	ITGA2B
CLNDBN	BAK PLATELET-SPECIFIC ANTIGEN not specified Glanzmann thrombasthenia
Reversed	0
HGVS	NC_000017.10:g.42453065A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003025.2, RCV000246752.2, RCV000288776.1,

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