rs121434553

Orientation

minus

Stabilized

minus

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

Make rs121434553(A;A)

Make rs121434553(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

237367151

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs121434553
dbSNP (classic)	rs121434553
ClinGen	rs121434553
ebi	rs121434553
HLI	rs121434553
Exac	rs121434553
Gnomad	rs121434553
Varsome	rs121434553
LitVar	rs121434553
Map	rs121434553
PheGenI	rs121434553
Biobank	rs121434553
1000 genomes	rs121434553
hgdp	rs121434553
ensembl	rs121434553
geneview	rs121434553
scholar	rs121434553
google	rs121434553
pharmgkb	rs121434553
gwascentral	rs121434553
openSNP	rs121434553
23andMe	rs121434553
SNPshot	rs121434553
SNPdbe	rs121434553
MSV3d	rs121434553
GWAS Ctlg	rs121434553

Max Magnitude

0

OMIM	120250
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434553(A;A)
Alt	rs121434553(A;A)
Reference	Rs121434553(G;G)
Significance	Other
Disease	Bethlem myopathy 1 not provided
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1 not provided
Reversed	1
HGVS	NC_000002.11:g.238275794C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018689.29, RCV000174101.1,