Have questions? Visit https://www.reddit.com/r/SNPedia

rs1107946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs1107946(A;A)
Make rs1107946(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position50203629
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs1107946
ebirs1107946
HLIrs1107946
Exacrs1107946
Varsomers1107946
Maprs1107946
PheGenIrs1107946
hapmaprs1107946
1000 genomesrs1107946
hgdprs1107946
ensemblrs1107946
gopubmedrs1107946
geneviewrs1107946
scholarrs1107946
googlers1107946
pharmgkbrs1107946
gwascentralrs1107946
openSNPrs1107946
23andMers1107946
23andMe allrs1107946
SNP Nexus

SNPshotrs1107946
SNPdbers1107946
MSV3drs1107946
GWAS Ctlgrs1107946
GMAF0.2525
Max Magnitude0
OMIM120150
DescCOLLAGEN, TYPE I, ALPHA-1; COL1A1
Variant
Relatedalso
OMIM120150
Desc
Variant0067
Relatedalso
OMIM166710
Desc
Variant
Relatedalso
[PMID 22174012OA-icon.png] JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women


[PMID 22190259] COL1A1 haplotypes and hip fracture

[PMID 15113403OA-icon.png] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.

[PMID 15157284OA-icon.png] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.

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

[PMID 17303000] Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families.

[PMID 17557158] The COL1A1 gene and high myopia susceptibility in Japanese.

[PMID 17697348OA-icon.png] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

[PMID 17903296OA-icon.png] Genome-wide association with bone mass and geometry in the Framingham Heart Study.

[PMID 18787887OA-icon.png] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.

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

[PMID 20798928] 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.

[PMID 22057139] A haplotype derived from the common variants at the -1997G/T and Sp1 binding site of the COL1A1 gene influences risk of postmenopausal osteoporosis in India.

[PMID 22066665] Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): the CUMAGAS-BMD information system.


ClinVar
Risk rs1107946(C;C)
Alt rs1107946(C;C)
Reference rs1107946(A;A)
Significance Other
Disease Bone mineral density variation quantitative trait locus
Variation info
Gene COL1A1
CLNDBN Bone mineral density variation quantitative trait locus
Reversed 0
HGVS NC_000017.10:g.48280990A\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000018881.2,