Rs492602

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Orientationminus
is asnp
is mentioned by
dbSNPrs492602
PheGenIrs492602
nextbiors492602
hapmaprs492602
1000 genomesrs492602
hgdprs492602
ensemblrs492602
gopubmedrs492602
geneviewrs492602
scholarrs492602
googlers492602
pharmgkbrs492602
gwascentralrs492602
openSNPrs492602
23andMers492602
23andMe allrs492602
SNP Nexus

SNPshotrs492602
SNPdbers492602
MSV3drs492602
GeneFUT2
Chromosome19
Orientationminus
GMAF0.3246
Position48703160
ReferenceGRCh38 38.1/141
Max Magnitude1.5
Geno Mag Summary
(C;C) 1.5 Higher B12 levels in women
(C;T) 1 Normal B12 levels
(T;T) 1 Normal B12 levels
? (C;C) (C;T) (T;T) 28
From [PMID 18776911OA-icon.png]: 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.
Neighborrs601338
Distance257
GWAS
SNP rs492602
PubMedID [PMID 18776911OA-icon.png]
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


OMIM612542
DescVITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1
Variant
Relatedalso
OMIM182100
DescFUCOSYLTRANSFERASE 2; FUT2
Variant
Relatedalso
[PMID 19744961OA-icon.png] Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway



GWAS snp
PMID [PMID 20686565OA-icon.png]
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 19474294OA-icon.png] 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



[PMID 23468552OA-icon.png] Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults.