rs1047781

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

19

Position

48703374

Gene	FUT2, LOC105447645

is a	snp
is	mentioned by
dbSNP	rs1047781
dbSNP (classic)	rs1047781
ClinGen	rs1047781
ebi	rs1047781
HLI	rs1047781
Exac	rs1047781
Gnomad	rs1047781
Varsome	rs1047781
LitVar	rs1047781
Map	rs1047781
PheGenI	rs1047781
Biobank	rs1047781
1000 genomes	rs1047781
hgdp	rs1047781
ensembl	rs1047781
geneview	rs1047781
scholar	rs1047781
google	rs1047781
pharmgkb	rs1047781
gwascentral	rs1047781
openSNP	rs1047781
23andMe	rs1047781
SNPshot	rs1047781
SNPdbe	rs1047781
MSV3d	rs1047781
GWAS Ctlg	rs1047781

GMAF

0.101

Max Magnitude

0

?	(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)
Alt	Rs1047781(T;T)
Reference	Rs1047781(A;A)
Significance	Non-pathogenic
Disease	SECRETOR/NONSECRETOR POLYMORPHISM
Variation	info
Gene	FUT2 LOC105447645
CLNDBN	SECRETOR/NONSECRETOR POLYMORPHISM, JAPANESE TYPE
Reversed	0
HGVS	NC_000019.9:g.49206631A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013811.3,

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

GWAS snp
PMID	[PMID 24941225]
Trait	Elevated serum carcinoembryonic antigen levels
Title	Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.
Risk Allele
P-val	1E-56
Odds Ratio	NR NR

[PMID 28824326] FUT2 genetic variants as predictors of tumor development with hepatocellular carcinoma.