rs970547

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs970547(A;A)

Make rs970547(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

75087586

Gene

COL12A1

is a	snp
is	mentioned by
dbSNP	rs970547
dbSNP (classic)	rs970547
ClinGen	rs970547
ebi	rs970547
HLI	rs970547
Exac	rs970547
Gnomad	rs970547
Varsome	rs970547
LitVar	rs970547
Map	rs970547
PheGenI	rs970547
Biobank	rs970547
1000 genomes	rs970547
hgdp	rs970547
ensembl	rs970547
geneview	rs970547
scholar	rs970547
google	rs970547
pharmgkb	rs970547
gwascentral	rs970547
openSNP	rs970547
23andMe	rs970547
SNPshot	rs970547
SNPdbe	rs970547
MSV3d	rs970547
GWAS Ctlg	rs970547

GMAF

0.2773

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 23013106] No association between COL3A1, COL6A1 or COL12A1 gene variants and range of motion

[PMID 22894972] Collagen genes and exercise-associated muscle cramping

ClinVar
Risk	rs970547(A;A)
Alt	rs970547(A;A)
Reference	Rs970547(G;G)
Significance	Non-pathogenic
Disease	not specified
Variation	info
Gene	COL12A1
CLNDBN	not specified
Reversed	1
HGVS	NC_000006.11:g.75797302C>T
CLNSRC
CLNACC	RCV000245895.1,