rs886043700

Orientation

plus

Stabilized

plus

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

Chromosome

21

Position

45990423

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs886043700
dbSNP (classic)	rs886043700
ClinGen	rs886043700
ebi	rs886043700
HLI	rs886043700
Exac	rs886043700
Gnomad	rs886043700
Varsome	rs886043700
LitVar	rs886043700
Map	rs886043700
PheGenI	rs886043700
Biobank	rs886043700
1000 genomes	rs886043700
hgdp	rs886043700
ensembl	rs886043700
geneview	rs886043700
scholar	rs886043700
google	rs886043700
pharmgkb	rs886043700
gwascentral	rs886043700
openSNP	rs886043700
23andMe	rs886043700
SNPshot	rs886043700
SNPdbe	rs886043700
MSV3d	rs886043700
GWAS Ctlg	rs886043700

Max Magnitude

0

ClinVar
Risk	rs886043700(A;A) rs886043700(T;T)
Alt	rs886043700(A;A) rs886043700(T;T)
Reference	Rs886043700(G;G)
Significance	Pathogenic
Disease	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A1
CLNDBN	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47410337G>A; NC_000021.8:g.47410337G>T
CLNSRC
CLNACC	RCV000322697.1, RCV000361022.1, RCV000298115.1, RCV000355204.1,