Rs1047781

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs1047781
PheGenI	rs1047781
nextbio	rs1047781
hapmap	rs1047781
1000 genomes	rs1047781
hgdp	rs1047781
ensembl	rs1047781
gopubmed	rs1047781
geneview	rs1047781
scholar	rs1047781
google	rs1047781
pharmgkb	rs1047781
gwascentral	rs1047781
openSNP	rs1047781
23andMe	rs1047781
23andMe all	rs1047781
SNP Nexus
SNPshot	rs1047781
SNPdbe	rs1047781
MSV3d	rs1047781

Gene

FUT2

Chromosome

19

Orientation

plus

GMAF

0.1007

Position

49206631

Reference

GRCh37 37.1/131

Max Magnitude

0

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]

OMIM	182100
Desc
Variant	0002
Related	also

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)
Normal	rs1047781(A;A)
Significance	2
Disease
ClinVar	info
Gene	FUT2
CLNDBN
Reversed	0
CLNHGVS	NC_000019.9:g.49206631A>T
CLNSRC

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