rs398124128

Orientation

minus

Stabilized

minus

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

Make rs398124128(A;A)

Make rs398124128(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

237360087

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs398124128
dbSNP (classic)	rs398124128
ClinGen	rs398124128
ebi	rs398124128
HLI	rs398124128
Exac	rs398124128
Gnomad	rs398124128
Varsome	rs398124128
LitVar	rs398124128
Map	rs398124128
PheGenI	rs398124128
Biobank	rs398124128
1000 genomes	rs398124128
hgdp	rs398124128
ensembl	rs398124128
geneview	rs398124128
scholar	rs398124128
google	rs398124128
pharmgkb	rs398124128
gwascentral	rs398124128
openSNP	rs398124128
23andMe	rs398124128
SNPshot	rs398124128
SNPdbe	rs398124128
MSV3d	rs398124128
GWAS Ctlg	rs398124128

Max Magnitude

0

ClinVar
Risk	rs398124128(A;A)
Alt	rs398124128(A;A)
Reference	Rs398124128(G;G)
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.238268730C>T
CLNSRC	ClinVar
CLNACC	RCV000080964.5, RCV000274424.1, RCV000331856.1,