rs2070739

minus

Geno	Mag	Summary
(C;C)	0
(G;G)	0	common on affy axiom data

Make rs2070739(A;A)

Make rs2070739(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47974193

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs2070739
dbSNP (classic)	rs2070739
ClinGen	rs2070739
ebi	rs2070739
HLI	rs2070739
Exac	rs2070739
Gnomad	rs2070739
Varsome	rs2070739
LitVar	rs2070739
Map	rs2070739
PheGenI	rs2070739
Biobank	rs2070739
1000 genomes	rs2070739
hgdp	rs2070739
ensembl	rs2070739
geneview	rs2070739
scholar	rs2070739
google	rs2070739
pharmgkb	rs2070739
gwascentral	rs2070739
openSNP	rs2070739
23andMe	rs2070739
SNPshot	rs2070739
SNPdbe	rs2070739
MSV3d	rs2070739
GWAS Ctlg	rs2070739

GMAF

0.1956

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

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

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

[PMID 19430638 ] 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.