rs758124326

Orientation

plus

Stabilized

plus

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

Make rs758124326(C;T)

Make rs758124326(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

237361156

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs758124326
dbSNP (classic)	rs758124326
ClinGen	rs758124326
ebi	rs758124326
HLI	rs758124326
Exac	rs758124326
Gnomad	rs758124326
Varsome	rs758124326
LitVar	rs758124326
Map	rs758124326
PheGenI	rs758124326
Biobank	rs758124326
1000 genomes	rs758124326
hgdp	rs758124326
ensembl	rs758124326
geneview	rs758124326
scholar	rs758124326
google	rs758124326
pharmgkb	rs758124326
gwascentral	rs758124326
openSNP	rs758124326
23andMe	rs758124326
SNPshot	rs758124326
SNPdbe	rs758124326
MSV3d	rs758124326
GWAS Ctlg	rs758124326

Max Magnitude

0

ClinVar
Risk	rs758124326(A;A) rs758124326(T;T)
Alt	rs758124326(A;A) rs758124326(T;T)
Reference	Rs758124326(C;C)
Significance	Pathogenic
Disease	Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1
Reversed	0
HGVS	NC_000002.11:g.238269799C>A
CLNSRC
CLNACC	RCV000306136.1,