rs886043519

Orientation

plus

Stabilized

plus

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

Chromosome

2

Position

237344476

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs886043519
dbSNP (classic)	rs886043519
ClinGen	rs886043519
ebi	rs886043519
HLI	rs886043519
Exac	rs886043519
Gnomad	rs886043519
Varsome	rs886043519
LitVar	rs886043519
Map	rs886043519
PheGenI	rs886043519
Biobank	rs886043519
1000 genomes	rs886043519
hgdp	rs886043519
ensembl	rs886043519
geneview	rs886043519
scholar	rs886043519
google	rs886043519
pharmgkb	rs886043519
gwascentral	rs886043519
openSNP	rs886043519
23andMe	rs886043519
SNPshot	rs886043519
SNPdbe	rs886043519
MSV3d	rs886043519
GWAS Ctlg	rs886043519

Max Magnitude

0

ClinVar
Risk	rs886043519(-;-)
Alt	rs886043519(-;-)
Reference	Rs886043519(G;G)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A3
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000002.11:g.238253119delG
CLNSRC
CLNACC	RCV000278167.1,