rs121912936

Orientation

plus

Stabilized

plus

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

Make rs121912936(A;G)

Make rs121912936(G;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

45984403

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs121912936
dbSNP (classic)	rs121912936
ClinGen	rs121912936
ebi	rs121912936
HLI	rs121912936
Exac	rs121912936
Gnomad	rs121912936
Varsome	rs121912936
LitVar	rs121912936
Map	rs121912936
PheGenI	rs121912936
Biobank	rs121912936
1000 genomes	rs121912936
hgdp	rs121912936
ensembl	rs121912936
geneview	rs121912936
scholar	rs121912936
google	rs121912936
pharmgkb	rs121912936
gwascentral	rs121912936
openSNP	rs121912936
23andMe	rs121912936
SNPshot	rs121912936
SNPdbe	rs121912936
MSV3d	rs121912936
GWAS Ctlg	rs121912936

Max Magnitude

0

OMIM	120220
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912936(G;G)
Alt	rs121912936(G;G)
Reference	Rs121912936(A;A)
Significance	Pathogenic
Disease	Bethlem myopathy 1 not provided Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A1
CLNDBN	Bethlem myopathy 1 not provided Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47404317A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018713.30, RCV000079810.3, RCV000177135.2,