rs121434555

Orientation

minus

Stabilized

minus

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

Make rs121434555(G;G)

Make rs121434555(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

237367010

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs121434555
dbSNP (classic)	rs121434555
ClinGen	rs121434555
ebi	rs121434555
HLI	rs121434555
Exac	rs121434555
Gnomad	rs121434555
Varsome	rs121434555
LitVar	rs121434555
Map	rs121434555
PheGenI	rs121434555
Biobank	rs121434555
1000 genomes	rs121434555
hgdp	rs121434555
ensembl	rs121434555
geneview	rs121434555
scholar	rs121434555
google	rs121434555
pharmgkb	rs121434555
gwascentral	rs121434555
openSNP	rs121434555
23andMe	rs121434555
SNPshot	rs121434555
SNPdbe	rs121434555
MSV3d	rs121434555
GWAS Ctlg	rs121434555

Max Magnitude

0

OMIM	120250
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121434555(G;G)
Alt	rs121434555(G;G)
Reference	Rs121434555(T;T)
Significance	Pathogenic
Disease	Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1
Reversed	1
HGVS	NC_000002.11:g.238275653A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018694.24,