rs3819299

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3	likely to carry one HLA-B27 allele, possible risk for B27 Syndromes.
(C;C)	3	likely to carry two HLA-B27 alleles, possible risk for B27 Syndromes.

Reference

GRCh38 38.1/141

Chromosome

6

Position

31354590

Gene

HLA-B

is a	snp
is	mentioned by
dbSNP	rs3819299
dbSNP (classic)	rs3819299
ClinGen	rs3819299
ebi	rs3819299
HLI	rs3819299
Exac	rs3819299
Gnomad	rs3819299
Varsome	rs3819299
LitVar	rs3819299
Map	rs3819299
PheGenI	rs3819299
Biobank	rs3819299
1000 genomes	rs3819299
hgdp	rs3819299
ensembl	rs3819299
geneview	rs3819299
scholar	rs3819299
google	rs3819299
pharmgkb	rs3819299
gwascentral	rs3819299
openSNP	rs3819299
23andMe	rs3819299
SNPshot	rs3819299
SNPdbe	rs3819299
MSV3d	rs3819299
GWAS Ctlg	rs3819299

GMAF

0.107

Max Magnitude

3

Perhaps the best known HLA-B27 tag SNP is rs116488202, located about 23kb away from rs3819299, but the former SNP is not tested on many platforms (for example, it is not tested by Ancestry), while the latter is and can be used as a proxy assuming strong enough linkage disequilibrium (which is likely at least in European populations but perhaps not others).

rs3819299 is reported to be associated with a (minor) impact on platelet count, but not with an association to ankylosing spondylitis (which is well reported as associated with HLA-B27).

rs3819299 is cited in this patent as associated with HLA-B*4002 in the JPT population

?

(A;A) (A;C) (C;C)

28

ClinVar
Risk	Rs3819299(C;C)
Alt	Rs3819299(C;C)
Reference	Rs3819299(A;A)
Significance	Histocompatibility
Disease
Variation	info
Gene	HLA-B
CLNDBN
Reversed	1
HGVS	NC_000006.11:g.31322367T>G
CLNSRC
CLNACC

GWAS snp
PMID	[PMID 22139419 ]
Trait	Platelet counts
Title	New gene functions in megakaryopoiesis and platelet formation.
Risk Allele	G
P-val	9E-10
Odds Ratio	5.05 [3.43-6.66] 10^9/l increase