rs398124119

Orientation

minus

Stabilized

minus

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

Make rs398124119(C;T)

Make rs398124119(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

237395121

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs398124119
dbSNP (classic)	rs398124119
ClinGen	rs398124119
ebi	rs398124119
HLI	rs398124119
Exac	rs398124119
Gnomad	rs398124119
Varsome	rs398124119
LitVar	rs398124119
Map	rs398124119
PheGenI	rs398124119
Biobank	rs398124119
1000 genomes	rs398124119
hgdp	rs398124119
ensembl	rs398124119
geneview	rs398124119
scholar	rs398124119
google	rs398124119
pharmgkb	rs398124119
gwascentral	rs398124119
openSNP	rs398124119
23andMe	rs398124119
SNPshot	rs398124119
SNPdbe	rs398124119
MSV3d	rs398124119
GWAS Ctlg	rs398124119

Max Magnitude

0

ClinVar
Risk	rs398124119(T;T)
Alt	rs398124119(T;T)
Reference	Rs398124119(C;C)
Significance	Pathogenic
Disease	not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	1
HGVS	NC_000002.11:g.238303764G>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000080916.4, RCV000280500.1, RCV000319162.1,