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rs235756

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) higher transferrin levels if rs1800562(A;A)
(T;T) higher transferrin levels if rs1800562(A;A)
ReferenceGRCh38 38.1/141
Chromosome20
Position6786464
GeneBMP2
is asnp
is mentioned by
dbSNPrs235756
ebirs235756
HLIrs235756
Exacrs235756
Varsomers235756
Maprs235756
PheGenIrs235756
hapmaprs235756
1000 genomesrs235756
hgdprs235756
ensemblrs235756
gopubmedrs235756
geneviewrs235756
scholarrs235756
googlers235756
pharmgkbrs235756
gwascentralrs235756
openSNPrs235756
23andMers235756
23andMe allrs235756
SNP Nexus

SNPshotrs235756
SNPdbers235756
MSV3drs235756
GWAS Ctlgrs235756
GMAF0.3246
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs235756, a relatively common SNP in the BMP2 gene, has been associated with higher serum transferrin levels - and presumably therefore higher risk for developing hemochromatosis - in the rare individuals who are rs1800562(A;A) homozygotes, i.e. those known as C282Y homozygotes.[PMID 17847004OA-icon.png]
Neighborrs235754
Distance566
OMIM235200
DescHEMOCHROMATOSIS; HFE
Variant
Relatedalso
OMIM112261
DescBONE MORPHOGENETIC PROTEIN 2; BMP2
Variant
Relatedalso
[PMID 21515830OA-icon.png] Genetic variations in the transforming growth factor beta pathway as predictors of survival in advanced non-small cell lung cancer


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


[PMID 19879168] A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.


[PMID 22323359] TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.