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rs2070739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common on affy axiom data
Make rs2070739(A;A)
Make rs2070739(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47974193
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs2070739
dbSNP (old)rs2070739
ClinGenrs2070739
ebirs2070739
HLIrs2070739
Exacrs2070739
Gnomadrs2070739
Varsomers2070739
LitVarrs2070739
Maprs2070739
PheGenIrs2070739
Biobankrs2070739
1000 genomesrs2070739
hgdprs2070739
ensemblrs2070739
gopubmedrs2070739
geneviewrs2070739
scholarrs2070739
googlers2070739
pharmgkbrs2070739
gwascentralrs2070739
openSNPrs2070739
23andMers2070739
23andMe allrs2070739
SNPshotrs2070739
SNPdbers2070739
MSV3drs2070739
GWAS Ctlgrs2070739
GMAF0.1956
Max Magnitude0
? (A;A) (A;G) (G;G) 28


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


[PMID 18523590OA-icon.png] Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.


[PMID 19430638OA-icon.png] Host genetic and epigenetic factors in toxoplasmosis.


ClinVar
Risk rs2070739(A;A)
Alt rs2070739(A;A)
Reference Rs2070739(G;G)
Significance Probable-non-pathogenic
Disease not specified Type II Collagenopathies Stickler Syndrome
Variation info
Gene COL2A1
CLNDBN not specified Type II Collagenopathies Stickler Syndrome, Dominant
Reversed 1
HGVS NC_000012.11:g.48367976C>T
CLNSRC
CLNACC RCV000247508.2, RCV000261606.1, RCV000300435.1,



[PMID 28476574] Association of gene variants of transcription factors PPARγ, RUNX2, Osterix genes and COL2A1, IGFBP3 genes with the development of osteonecrosis of the femoral head in Chinese population.


[PMID 29799806] Variations of Collagen-Encoding Genes are Associated with Exercise-Induced Muscle Damage.