Rs492602

Orientation

minus

is a	snp
is	mentioned by
dbSNP	rs492602
PheGenI	rs492602
nextbio	rs492602
hapmap	rs492602
1000 genomes	rs492602
hgdp	rs492602
ensembl	rs492602
gopubmed	rs492602
geneview	rs492602
scholar	rs492602
google	rs492602
pharmgkb	rs492602
gwascentral	rs492602
openSNP	rs492602
23andMe	rs492602
23andMe all	rs492602
SNP Nexus
SNPshot	rs492602
SNPdbe	rs492602
MSV3d	rs492602

Gene

FUT2

Chromosome

19

Orientation

minus

GMAF

0.3246

Position

49206417

Reference

GRCh37 37.1/131

Max Magnitude

Geno	Mag	Summary
(C;C)		higher B12 levels in women
(C;T)		normal
(T;T)		normal

?	(C;C) (C;T) (T;T)	28

From [PMID 18776911]: We identified a strong association (p = 5.36 x 10(-17)) between rs492602 in the FUT2 gene and plasma vitamin B(12) levels in a genome-wide scan (n = 1,658) and an independent replication sample (n = 1,059) from the Nurses' Health Study. Women homozygous for the rs492602(C) allele (in dbSNP orientation) had higher B(12) levels. This allele is in strong linkage disequilibrium with the FUT2 nonsecretor variant encoding W143X, suggesting a plausible mechanism for altered B(12) absorption and plasma levels.

Neighbor	rs601338
Distance	257

GWAS
SNP	rs492602
PubMedID	[PMID 18776911]
Condition	Plasma level of vitamin B12
Gene	FUT2
Risk Allele	G
pValue	5.00E-017
OR	0.09
95% CI	0.07-0.11) pg/ml decreas

OMIM	612542
Desc	VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1
Variant
Related	also

OMIM	182100
Desc	FUCOSYLTRANSFERASE 2; FUT2
Variant
Related	also

[PMID 19744961] Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway

GWAS snp
PMID	[PMID 20686565]
Trait
Title	Biological, clinical and population relevance of 95 loci for blood lipids.
Risk Allele	G
P-val	2E-10
Odds Ratio	1.2700 None

[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

GET Evidence
rs492602
aa_change
aa_change_short
impact	pathogenic
qualified_impact	Insufficiently evaluated pathogenic
overall_frequency	0.492099
summary