rs121912939

Orientation

plus

Stabilized

plus

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

Make rs121912939(C;C)

Make rs121912939(C;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

45989617

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs121912939
dbSNP (classic)	rs121912939
ClinGen	rs121912939
ebi	rs121912939
HLI	rs121912939
Exac	rs121912939
Gnomad	rs121912939
Varsome	rs121912939
LitVar	rs121912939
Map	rs121912939
PheGenI	rs121912939
Biobank	rs121912939
1000 genomes	rs121912939
hgdp	rs121912939
ensembl	rs121912939
geneview	rs121912939
scholar	rs121912939
google	rs121912939
pharmgkb	rs121912939
gwascentral	rs121912939
openSNP	rs121912939
23andMe	rs121912939
SNPshot	rs121912939
SNPdbe	rs121912939
MSV3d	rs121912939
GWAS Ctlg	rs121912939

Max Magnitude

0

OMIM	120220
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121912939(A;A) rs121912939(C;C)
Alt	rs121912939(A;A) rs121912939(C;C)
Reference	Rs121912939(G;G)
Significance	Pathogenic
Disease	not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A1
CLNDBN	not provided Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1, autosomal dominant
Reversed	0
HGVS	NC_000021.8:g.47409531G>A; NC_000021.8:g.47409531G>C
CLNSRC	HGMD UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000079833.5, RCV000173747.2, RCV000173748.2, RCV000018721.30,