rs117725825

Orientation

plus

Stabilized

plus

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

Make rs117725825(C;T)

Make rs117725825(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46132287

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs117725825
dbSNP (classic)	rs117725825
ClinGen	rs117725825
ebi	rs117725825
HLI	rs117725825
Exac	rs117725825
Gnomad	rs117725825
Varsome	rs117725825
LitVar	rs117725825
Map	rs117725825
PheGenI	rs117725825
Biobank	rs117725825
1000 genomes	rs117725825
hgdp	rs117725825
ensembl	rs117725825
geneview	rs117725825
scholar	rs117725825
google	rs117725825
pharmgkb	rs117725825
gwascentral	rs117725825
openSNP	rs117725825
23andMe	rs117725825
SNPshot	rs117725825
SNPdbe	rs117725825
MSV3d	rs117725825
GWAS Ctlg	rs117725825

Merged from

Rs121912941

Max Magnitude

0

OMIM	120240
Desc
Variant	0010
Related	also

ClinVar
Risk	rs117725825(T;T)
Alt	rs117725825(T;T)
Reference	Rs117725825(C;C)
Significance	Pathogenic
Disease	Bethlem myopathy 1 not specified Myosclerosis Collagen VI-related myopathy
Variation	info
Gene	COL6A2
CLNDBN	Bethlem myopathy 1 not specified Myosclerosis Collagen VI-related myopathy
Reversed	0
HGVS	NC_000021.8:g.47552201C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018704.28, RCV000149938.4, RCV000302217.1, RCV000359356.1,