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Rs1047781

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Orientationplus
is asnp
is mentioned by
dbSNPrs1047781
PheGenIrs1047781
nextbiors1047781
hapmaprs1047781
1000 genomesrs1047781
hgdprs1047781
ensemblrs1047781
gopubmedrs1047781
geneviewrs1047781
scholarrs1047781
googlers1047781
pharmgkbrs1047781
gwascentralrs1047781
openSNPrs1047781
23andMers1047781
23andMe allrs1047781
SNP Nexus

SNPshotrs1047781
SNPdbers1047781
MSV3drs1047781
GeneFUT2
Chromosome19
Orientationplus
GMAF0.101
Position48703374
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(A;A) 0 ABH blood group "Secretor" status if Japanese
(A;T) ABH blood group "Secretor" status if Japanese
(T;T) ABH blood group "Non-Secretor" status if Japanese
? (A;A) (A;T) (T;T) 28
rs1047781, also known as Ile129Phe, is found on chromosome 19 in the alpha(1,2)-fucosyltransferase FUT2 gene. The wild-type rs1047781(A) encodes the 'Secretor' allele, while rs1047781(T) encodes the 'nonsecretor' (se2 or sej) allele.

This basis for FUT2 nonsecretor status is found primarily in Japanese. In Caucasians, nonsecretor status is associated with the se1 allele of rs601338, and rs1047781 genotype shows almost no variation. In Japanese, the se1 allele is absent, but 15% of individuals are non-secretors based on being homozygous for rs1047781(T;T).[PMID 8621666]

OMIM182100
Desc
Variant0002
Relatedalso
GWAS snp
PMID [PMID 22367966]
Trait
Title Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men.
Risk Allele
P-val 4E-36
Odds Ratio 70.2100 None


ClinVar
Risk rs1047781(T;T)
Alt rs1047781(T;T)
Reference rs1047781(A;A)
Significance 2
Disease SECRETOR/NONSECRETOR POLYMORPHISM
ClinVar info
Gene FUT2
CLNDBN SECRETOR/NONSECRETOR POLYMORPHISM, JAPANESE TYPE
Reversed 0
CLNHGVS NC_000019.9:g.49206631A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013811.1



GET Evidence
FUT2-I140F
aa_change Ile140Phe
aa_change_short I140F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.000929886
summary



GWAS snp
PMID [PMID 23300138]
Trait Tumor biomarkers
Title A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.
Risk Allele T
P-val 6E-209
Odds Ratio .24 [0.21-0.26] ng/ml increase