rs121912938

Orientation

plus

Stabilized

plus

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

Make rs121912938(A;A)

Make rs121912938(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

45989129

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs121912938
dbSNP (classic)	rs121912938
ClinGen	rs121912938
ebi	rs121912938
HLI	rs121912938
Exac	rs121912938
Gnomad	rs121912938
Varsome	rs121912938
LitVar	rs121912938
Map	rs121912938
PheGenI	rs121912938
Biobank	rs121912938
1000 genomes	rs121912938
hgdp	rs121912938
ensembl	rs121912938
geneview	rs121912938
scholar	rs121912938
google	rs121912938
pharmgkb	rs121912938
gwascentral	rs121912938
openSNP	rs121912938
23andMe	rs121912938
SNPshot	rs121912938
SNPdbe	rs121912938
MSV3d	rs121912938
GWAS Ctlg	rs121912938

Max Magnitude

0

OMIM	120220
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121912938(A;A)
Alt	rs121912938(A;A)
Reference	Rs121912938(G;G)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 not provided Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A1
CLNDBN	Ullrich congenital muscular dystrophy 1, autosomal dominant not provided Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47409043G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018720.30, RCV000079828.5, RCV000180573.2, RCV000180574.2,