rs886041434

Orientation

minus

Stabilized

minus

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

Chromosome

2

Position

237361176

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs886041434
dbSNP (classic)	rs886041434
ClinGen	rs886041434
ebi	rs886041434
HLI	rs886041434
Exac	rs886041434
Gnomad	rs886041434
Varsome	rs886041434
LitVar	rs886041434
Map	rs886041434
PheGenI	rs886041434
Biobank	rs886041434
1000 genomes	rs886041434
hgdp	rs886041434
ensembl	rs886041434
geneview	rs886041434
scholar	rs886041434
google	rs886041434
pharmgkb	rs886041434
gwascentral	rs886041434
openSNP	rs886041434
23andMe	rs886041434
SNPshot	rs886041434
SNPdbe	rs886041434
MSV3d	rs886041434
GWAS Ctlg	rs886041434

Max Magnitude

0

ClinVar
Risk	rs886041434(C;C)
Alt	rs886041434(C;C)
Reference	Rs886041434(A;A)
Significance	Pathogenic
Disease	not provided Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A3
CLNDBN	not provided Ullrich congenital muscular dystrophy 1
Reversed	1
HGVS	NC_000002.11:g.238269819T>G
CLNSRC
CLNACC	RCV000336040.1, RCV000357696.1,