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rs2412298

From SNPedia

Orientationminus
Stabilizedminus
Make rs2412298(-;-)
Make rs2412298(-;C)
Make rs2412298(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position50203294
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs2412298
dbSNP (classic)rs2412298
ClinGenrs2412298
ebirs2412298
HLIrs2412298
Exacrs2412298
Gnomadrs2412298
Varsomers2412298
LitVarrs2412298
Maprs2412298
PheGenIrs2412298
Biobankrs2412298
1000 genomesrs2412298
hgdprs2412298
ensemblrs2412298
geneviewrs2412298
scholarrs2412298
googlers2412298
pharmgkbrs2412298
gwascentralrs2412298
openSNPrs2412298
23andMers2412298
SNPshotrs2412298
SNPdbers2412298
MSV3drs2412298
GWAS Ctlgrs2412298
Max Magnitude0
OMIM120150
DescCOLLAGEN, TYPE I, ALPHA-1; COL1A1
Variant
Relatedalso
OMIM120150
Desc
Variant0068
Relatedalso
OMIM166710
Desc
Variant
Relatedalso

[PMID 16804049] Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women.


[PMID 19016596] A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture.


[PMID 20798928OA-icon.png] Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies.


[PMID 21269451OA-icon.png] Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system.