rs886043147

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45984356

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886043147
dbSNP (classic)	rs886043147
ClinGen	rs886043147
ebi	rs886043147
HLI	rs886043147
Exac	rs886043147
Gnomad	rs886043147
Varsome	rs886043147
LitVar	rs886043147
Map	rs886043147
PheGenI	rs886043147
Biobank	rs886043147
1000 genomes	rs886043147
hgdp	rs886043147
ensembl	rs886043147
geneview	rs886043147
scholar	rs886043147
google	rs886043147
pharmgkb	rs886043147
gwascentral	rs886043147
openSNP	rs886043147
23andMe	rs886043147
SNPshot	rs886043147
SNPdbe	rs886043147
MSV3d	rs886043147
GWAS Ctlg	rs886043147

Max Magnitude

0

ClinVar
Risk	rs886043147(-;-)
Alt	rs886043147(-;-)
Reference	Rs886043147(GCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA;GCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA)
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.47404270_47404304delCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCG
CLNSRC
CLNACC	RCV000276636.1,