rs1049296

plus

Geno	Mag	Summary
(C;C)	0	C1 subtype of transferrin; common in clinvar
(C;T)	1.1	Heterozygote carrying both C1 and C2 transferrin subtypes; very slightly higher risk for Alzheimers
(T;T)	1.2	C2 transferrin subtype; very slightly higher risk for Alzheimers

Reference

GRCh38 38.1/141

Chromosome

3

Position

133775510

Gene

TF

is a	snp
is	mentioned by
dbSNP	rs1049296
dbSNP (classic)	rs1049296
ClinGen	rs1049296
ebi	rs1049296
HLI	rs1049296
Exac	rs1049296
Gnomad	rs1049296
Varsome	rs1049296
LitVar	rs1049296
Map	rs1049296
PheGenI	rs1049296
Biobank	rs1049296
1000 genomes	rs1049296
hgdp	rs1049296
ensembl	rs1049296
geneview	rs1049296
scholar	rs1049296
google	rs1049296
pharmgkb	rs1049296
gwascentral	rs1049296
openSNP	rs1049296
23andMe	rs1049296
SNPshot	rs1049296
SNPdbe	rs1049296
MSV3d	rs1049296
GWAS Ctlg	rs1049296

GMAF

0.1488

Max Magnitude

1.2

rs1049296, also known as Pro570Ser, is best known as the basis for the C1/C2 subtypes of the transferrin TF gene. The rs1049296(C) allele encodes the C1 subtype, and the rarer rs1049296(T) allele encodes the C2 subtype.

Involved in the transport of iron, transferrin and its subtypes have been linked at times to various conditions, perhaps most notably Alzheimer's disease. One meta-analyis of 19 studies with 6310 cases and 13661 controls concluded that the C2 allele, rs1049296(T), was associated with slightly increased risk for Alzheimer's, with odds ratios around 1.1-1.2.[PMID 23968943]

Pathogens may scavenge iron, and the body's attempts to sequester it from such pathogens are a form of defense termed nutritional immunity. One explanation for the presence of the C2 TF subtype in humans is that it may reduce the effectiveness of some bacterial transferrin binding proteins.10.1126/science.1259329 [1]

?

(C;C) (C;T) (T;T)

28

[PMID 20029940 ] Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease

OMIM	190000
Desc
Variant	0004
Related	also

GWAS snp
PMID	[PMID 21665994 ]
Trait
Title	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
Risk Allele	T
P-val	5E-43
Odds Ratio	0.2900 [0.25-0.33] unit decrease

ClinVar
Risk	Rs1049296(T;T)
Alt	Rs1049296(T;T)
Reference	Rs1049296(C;C)
Significance	Other
Disease	Transferrin variant c1/c2 Alzheimer disease Atransferrinemia
Variation	info
Gene	TF
CLNDBN	Transferrin variant c1/c2 Alzheimer disease, susceptibility to Atransferrinemia
Reversed	0
HGVS	NC_000003.11:g.133494354C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013451.23, RCV000013452.3, RCV000376325.1,

[PMID 17357082 ] Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

[PMID 17601350 ] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

[PMID 18795173 ] Variants in iron metabolism genes predict higher blood lead levels in young children.

[PMID 18813964 ] Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.

[PMID 18830724 ] Assessment of Alzheimer's disease case-control associations using family-based methods.

[PMID 19084216 ] Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus.

[PMID 19165391 ] Iron metabolism genes, low-level lead exposure, and QT interval.

[PMID 19673882 ] A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.

[PMID 20574532 ] Intermediate phenotypes identify divergent pathways to Alzheimer's disease.

[PMID 20659343 ] HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.

[PMID 23732512 ] Effect modification by transferrin C2 polymorphism on lead exposure, hemoglobin levels, and IQ.

[PMID 24121126 ] Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin

[PMID 31936202 ] The Prevalence of Insomnia and the Link between Iron Metabolism Genes Polymorphisms, TF rs1049296 C>T, TF rs3811647 G>A, TFR rs7385804 A>C, HAMP rs10421768 A>G and Sleep Disorders in Polish Individuals with ASD.