rs886042402

Orientation

plus

Stabilized

plus

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

Chromosome

2

Position

237367177

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs886042402
dbSNP (classic)	rs886042402
ClinGen	rs886042402
ebi	rs886042402
HLI	rs886042402
Exac	rs886042402
Gnomad	rs886042402
Varsome	rs886042402
LitVar	rs886042402
Map	rs886042402
PheGenI	rs886042402
Biobank	rs886042402
1000 genomes	rs886042402
hgdp	rs886042402
ensembl	rs886042402
geneview	rs886042402
scholar	rs886042402
google	rs886042402
pharmgkb	rs886042402
gwascentral	rs886042402
openSNP	rs886042402
23andMe	rs886042402
SNPshot	rs886042402
SNPdbe	rs886042402
MSV3d	rs886042402
GWAS Ctlg	rs886042402

Max Magnitude

0

ClinVar
Risk	rs886042402(T;T)
Alt	rs886042402(T;T)
Reference	Rs886042402(A;A)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	0
HGVS	NC_000002.11:g.238275820A>T
CLNSRC
CLNACC	RCV000278646.1, RCV000343109.1,