rs4947296

plus

Geno	Mag	Summary
(C;C)	2	Increased (2.5x) risk for Graves' disease
(C;T)	1.7	Slightly (1.7x) increased risk for Graves' disease
(T;T)	0	common on affy axiom data

Reference

GRCh38 38.1/141

Chromosome

6

Position

31090401

is a	snp
is	mentioned by
dbSNP	rs4947296
dbSNP (classic)	rs4947296
ClinGen	rs4947296
ebi	rs4947296
HLI	rs4947296
Exac	rs4947296
Gnomad	rs4947296
Varsome	rs4947296
LitVar	rs4947296
Map	rs4947296
PheGenI	rs4947296
Biobank	rs4947296
1000 genomes	rs4947296
hgdp	rs4947296
ensembl	rs4947296
geneview	rs4947296
scholar	rs4947296
google	rs4947296
pharmgkb	rs4947296
gwascentral	rs4947296
openSNP	rs4947296
23andMe	rs4947296
SNPshot	rs4947296
SNPdbe	rs4947296
MSV3d	rs4947296
GWAS Ctlg	rs4947296

GMAF

0.09504

Max Magnitude

2

rs4947296 is considered to be a SNP in the MUC21 gene, located upstream of the HLA locus on chromosome 6.

A 2011 study of ~5,000 patients with Graves' disease found an association with rs4947296(C); the odds ratio was 1.77 (CI: 1.65-1.91, p = 3.5 x 10e-51).[PMID 21847180 ]

?

(C;C) (C;T) (T;T)

28

GWAS snp
PMID	[PMID 21841780]
Trait
Title	A genome-wide association study identifies two new risk loci for Graves' disease.
Risk Allele	C
P-val	4E-51
Odds Ratio	1.7700 [1.65-1.91]

GWAS snp
PMID	[PMID 23001997]
Trait	Behcet's disease
Title	Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study.
Risk Allele
P-val	1E-11
Odds Ratio	2.57 [1.96-3.37]

[PMID 28598035] Genetic Study of Early-onset Graves' Disease in the Chinese Han Population.