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rs1999805

From SNPedia

Orientationminus
Stabilizedminus
Make rs1999805(C;C)
Make rs1999805(C;T)
Make rs1999805(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position151747229
GeneESR1
is asnp
is mentioned by
dbSNPrs1999805
ebirs1999805
HLIrs1999805
Exacrs1999805
Varsomers1999805
Maprs1999805
PheGenIrs1999805
hapmaprs1999805
1000 genomesrs1999805
hgdprs1999805
ensemblrs1999805
gopubmedrs1999805
geneviewrs1999805
scholarrs1999805
googlers1999805
pharmgkbrs1999805
gwascentralrs1999805
openSNPrs1999805
23andMers1999805
23andMe allrs1999805
SNP Nexus

SNPshotrs1999805
SNPdbers1999805
MSV3drs1999805
GWAS Ctlgrs1999805
GMAF0.4876
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs1999805 increases susceptibility to Bone mineral density variations, lower for carriers of the A allele [PMID 18445777]
OMIM612114
DescBONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11
Variant
Relatedalso
[PMID 21760950OA-icon.png] The ESR1 (6q25) locus is associated with calcaneal ultrasound parameters and radial volumetric bone mineral density in European men


[PMID 18305958OA-icon.png] Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population.


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


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


GET Evidence
rs1999805
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.53125
summary



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