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rs1038304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 0
Make rs1038304(A;A)
Make rs1038304(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position151612040
GeneCCDC170
is asnp
is mentioned by
dbSNPrs1038304
ebirs1038304
HLIrs1038304
Exacrs1038304
Varsomers1038304
Maprs1038304
PheGenIrs1038304
hapmaprs1038304
1000 genomesrs1038304
hgdprs1038304
ensemblrs1038304
gopubmedrs1038304
geneviewrs1038304
scholarrs1038304
googlers1038304
pharmgkbrs1038304
gwascentralrs1038304
openSNPrs1038304
23andMers1038304
23andMe allrs1038304
SNP Nexus

SNPshotrs1038304
SNPdbers1038304
MSV3drs1038304
GWAS Ctlgrs1038304
GMAF0.4568
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Rs1038304
PubMed [PMID 18445777]
Affy Probeset SNP_A-1988119
Affy Orientation same
On GW 5.0
Alleles A/B A/G
Ancestral G
Population Caucasian
Allele G
Case Freq.
Control Freq.
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All -
Disease Bone mineral density, lower (BMD-L)


rs1038304 increases susceptibility to Bone mineral density variations, lower for carriers of the G allele [PMID 18445777]

GWAS
SNP rs1038304
PubMedID [PMID 18445777]
Condition Bone mineral density (hip)
Gene ESR1
Risk Allele G
pValue 5.00E-009
OR 0.08
95% CI 0.06-0.11) SD decreas


GWAS snp
PMID [PMID 19079262]
Trait Bone mineral density (hip)
Title New sequence variants associated with bone mineral density
Risk Allele G
P-val 4E-10
Odds Ratio 0.08 [0.06-0.11] SD decrease
OMIM612114
DescBONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11
Variant
Relatedalso




[PMID 21528353] Genetic variants of 6q25 and breast cancer susceptibility: a two-stage fine mapping study in a Chinese population


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


[PMID 20534768OA-icon.png] OPG and RANK polymorphisms are both associated with cortical bone mineral density: findings from a metaanalysis of the Avon longitudinal study of parents and children and gothenburg osteoporosis and obesity determinants cohorts.


GET Evidence
rs1038304
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.632812
summary



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