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rs6929137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs6929137(A;A)
Make rs6929137(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position151615542
GeneCCDC170
is asnp
is mentioned by
dbSNPrs6929137
ebirs6929137
HLIrs6929137
Exacrs6929137
Varsomers6929137
Maprs6929137
PheGenIrs6929137
hapmaprs6929137
1000 genomesrs6929137
hgdprs6929137
ensemblrs6929137
gopubmedrs6929137
geneviewrs6929137
scholarrs6929137
googlers6929137
pharmgkbrs6929137
gwascentralrs6929137
openSNPrs6929137
23andMers6929137
23andMe allrs6929137
SNP Nexus

SNPshotrs6929137
SNPdbers6929137
MSV3drs6929137
GWAS Ctlgrs6929137
GMAF0.3402
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs6929137 increases susceptibility to Bone mineral density variations, lower for carriers of the A allele [PMID 18445777]
GWAS snp
PMID [PMID 19079262]
Trait Bone mineral density (spine)
Title New sequence variants associated with bone mineral density
Risk Allele A
P-val 2E-10
Odds Ratio 0.10 [0.07-0.13] SD decrease



[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 20661439OA-icon.png] Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.


GET Evidence
C6ORF97-V604I
aa_change Val604Ile
aa_change_short V604I
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.37767
summary



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


ClinVar
Risk rs6929137(A;A)
Alt rs6929137(A;A)
Reference rs6929137(G;G)
Significance Probable-Pathogenic
Disease Estrogen resistance
Variation info
Gene CCDC170
CLNDBN Estrogen resistance
Reversed 0
HGVS NC_000006.11:g.151936677G>A
CLNSRC ClinVar
CLNACC RCV000143990.1,