rs121912935

Orientation

plus

Stabilized

plus

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

Make rs121912935(A;A)

Make rs121912935(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

45990792

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs121912935
dbSNP (classic)	rs121912935
ClinGen	rs121912935
ebi	rs121912935
HLI	rs121912935
Exac	rs121912935
Gnomad	rs121912935
Varsome	rs121912935
LitVar	rs121912935
Map	rs121912935
PheGenI	rs121912935
Biobank	rs121912935
1000 genomes	rs121912935
hgdp	rs121912935
ensembl	rs121912935
geneview	rs121912935
scholar	rs121912935
google	rs121912935
pharmgkb	rs121912935
gwascentral	rs121912935
openSNP	rs121912935
23andMe	rs121912935
SNPshot	rs121912935
SNPdbe	rs121912935
MSV3d	rs121912935
GWAS Ctlg	rs121912935

Max Magnitude

0

OMIM	120220
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912935(A;A) rs121912935(T;T)
Alt	rs121912935(A;A) rs121912935(T;T)
Reference	Rs121912935(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.47410706G>A; NC_000021.8:g.47410706G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018712.28, RCV000267474.1, RCV000324350.1,