rs121434554

Orientation

minus

Stabilized

minus

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

Make rs121434554(C;T)

Make rs121434554(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

237381419

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs121434554
dbSNP (classic)	rs121434554
ClinGen	rs121434554
ebi	rs121434554
HLI	rs121434554
Exac	rs121434554
Gnomad	rs121434554
Varsome	rs121434554
LitVar	rs121434554
Map	rs121434554
PheGenI	rs121434554
Biobank	rs121434554
1000 genomes	rs121434554
hgdp	rs121434554
ensembl	rs121434554
geneview	rs121434554
scholar	rs121434554
google	rs121434554
pharmgkb	rs121434554
gwascentral	rs121434554
openSNP	rs121434554
23andMe	rs121434554
SNPshot	rs121434554
SNPdbe	rs121434554
MSV3d	rs121434554
GWAS Ctlg	rs121434554

Max Magnitude

0

OMIM	120250
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434554(T;T)
Alt	rs121434554(T;T)
Reference	Rs121434554(C;C)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A3
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	1
HGVS	NC_000002.11:g.238290062G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018691.28,