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rs1799899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1799899(A;A)
Make rs1799899(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position133756968
GeneTF
is asnp
is mentioned by
dbSNPrs1799899
ebirs1799899
HLIrs1799899
Exacrs1799899
Varsomers1799899
Maprs1799899
PheGenIrs1799899
hapmaprs1799899
1000 genomesrs1799899
hgdprs1799899
ensemblrs1799899
gopubmedrs1799899
geneviewrs1799899
scholarrs1799899
googlers1799899
pharmgkbrs1799899
gwascentralrs1799899
openSNPrs1799899
23andMers1799899
23andMe allrs1799899
SNP Nexus

SNPshotrs1799899
SNPdbers1799899
MSV3drs1799899
GWAS Ctlgrs1799899
GMAF0.03581
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM190000
DescIRON DEFICIENCY ANEMIA, SUSCEPTIBILITY TO
Variant0008
Relatedalso

The A allele of rs1799899, also known as the human transferrin G277S mutation, is associated with iron deficiency anemia [PMID 11703331], lower total iron binding capacity (TIBC), and anemia in menstruating white women.

GWAS snp
PMID [PMID 21665994OA-icon.png]
Trait
Title Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
Risk Allele A
P-val 1E-9
Odds Ratio 0.4020 [0.27-0.53] unit decrease


ClinVar
Risk rs1799899(A;A)
Alt rs1799899(A;A)
Reference rs1799899(G;G)
Significance Unknown
Disease Iron deficiency anemia
Variation info
Gene TF
CLNDBN Iron deficiency anemia
Reversed 0
HGVS NC_000003.11:g.133475812G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013457.3,



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


GET Evidence
TF-G277S
aa_change Gly277Ser
aa_change_short G277S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0337423
summary