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rs4870044

From SNPedia

Orientationplus
Stabilizedplus
Make rs4870044(C;C)
Make rs4870044(C;T)
Make rs4870044(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position151580274
GeneCCDC170
is asnp
is mentioned by
dbSNPrs4870044
ebirs4870044
HLIrs4870044
Exacrs4870044
Varsomers4870044
Maprs4870044
PheGenIrs4870044
hapmaprs4870044
1000 genomesrs4870044
hgdprs4870044
ensemblrs4870044
gopubmedrs4870044
geneviewrs4870044
scholarrs4870044
googlers4870044
pharmgkbrs4870044
gwascentralrs4870044
openSNPrs4870044
23andMers4870044
23andMe allrs4870044
SNP Nexus

SNPshotrs4870044
SNPdbers4870044
MSV3drs4870044
GWAS Ctlgrs4870044
GMAF0.4564
Max Magnitude
? (C;C) (C;T) (T;T) 28

rs4870044 increases susceptibility to Bone mineral density variations, lower for carriers of the T allele [PMID 18445777]

GWAS
SNP rs4870044
PubMedID [PMID 18445777]
Condition Bone mineral density (spine)
Gene ESR1
Risk Allele T
pValue 2.00E-011
OR 0.11
95% CI 0.08-0.14) SD decreas


OMIM612114
DescBONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11
Variant
Relatedalso
[PMID 22022476OA-icon.png] Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation


[PMID 21646926] Interactions of osteoporosis candidate genes for age at menarche, age at natural menopause, and maximal height in Han Chinese women


[PMID 19181680OA-icon.png] Common variants in the region around Osterix are associated with bone mineral density and growth in childhood.


[PMID 19629617OA-icon.png] Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening.


[PMID 20072603OA-icon.png] Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.


GET Evidence
rs4870044
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.507812
summary



[PMID 24481879] Association of ESR1 and C6orf97 gene polymorphism with osteoporosis in postmenopausal women


[PMID 23074152OA-icon.png] Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women.