rs878854379

Orientation

minus

Stabilized

minus

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

Make rs878854379(C;T)

Make rs878854379(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

2

Position

237344754

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs878854379
dbSNP (classic)	rs878854379
ClinGen	rs878854379
ebi	rs878854379
HLI	rs878854379
Exac	rs878854379
Gnomad	rs878854379
Varsome	rs878854379
LitVar	rs878854379
Map	rs878854379
PheGenI	rs878854379
Biobank	rs878854379
1000 genomes	rs878854379
hgdp	rs878854379
ensembl	rs878854379
geneview	rs878854379
scholar	rs878854379
google	rs878854379
pharmgkb	rs878854379
gwascentral	rs878854379
openSNP	rs878854379
23andMe	rs878854379
SNPshot	rs878854379
SNPdbe	rs878854379
MSV3d	rs878854379
GWAS Ctlg	rs878854379

Max Magnitude

0

ClinVar
Risk	rs878854379(G;G) rs878854379(T;T)
Alt	rs878854379(G;G) rs878854379(T;T)
Reference	Rs878854379(C;C)
Significance	Probable-Pathogenic
Disease	Bethlem myopathy 1 not specified
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1 not specified
Reversed	1
HGVS	NC_000002.11:g.238253397G>A; NC_000002.11:g.238253397G>C
CLNSRC
CLNACC	RCV000232617.1, RCV000331230.1,