rs886043354

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45987632

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886043354
dbSNP (classic)	rs886043354
ClinGen	rs886043354
ebi	rs886043354
HLI	rs886043354
Exac	rs886043354
Gnomad	rs886043354
Varsome	rs886043354
LitVar	rs886043354
Map	rs886043354
PheGenI	rs886043354
Biobank	rs886043354
1000 genomes	rs886043354
hgdp	rs886043354
ensembl	rs886043354
geneview	rs886043354
scholar	rs886043354
google	rs886043354
pharmgkb	rs886043354
gwascentral	rs886043354
openSNP	rs886043354
23andMe	rs886043354
SNPshot	rs886043354
SNPdbe	rs886043354
MSV3d	rs886043354
GWAS Ctlg	rs886043354

Max Magnitude

0

ClinVar
Risk	rs886043354(-;-)
Alt	rs886043354(-;-)
Reference	Rs886043354(CTCCGGGG;CTCCGGGG)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A1
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47407546_47407553delTCCGGGGC
CLNSRC
CLNACC	RCV000262218.1,