rs886043113

Orientation

plus

Stabilized

plus

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

Chromosome

2

Position

237347812

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs886043113
dbSNP (classic)	rs886043113
ClinGen	rs886043113
ebi	rs886043113
HLI	rs886043113
Exac	rs886043113
Gnomad	rs886043113
Varsome	rs886043113
LitVar	rs886043113
Map	rs886043113
PheGenI	rs886043113
Biobank	rs886043113
1000 genomes	rs886043113
hgdp	rs886043113
ensembl	rs886043113
geneview	rs886043113
scholar	rs886043113
google	rs886043113
pharmgkb	rs886043113
gwascentral	rs886043113
openSNP	rs886043113
23andMe	rs886043113
SNPshot	rs886043113
SNPdbe	rs886043113
MSV3d	rs886043113
GWAS Ctlg	rs886043113

Max Magnitude

0

ClinVar
Risk	rs886043113(A;A)
Alt	rs886043113(A;A)
Reference	Rs886043113(G;G)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 not provided
Variation	info
Gene	COL6A3
CLNDBN	Ullrich congenital muscular dystrophy 1 not provided
Reversed	0
HGVS	NC_000002.11:g.238256455G>A
CLNSRC
CLNACC	RCV000359013.1, RCV000432500.1,