rs267606748

Orientation

plus

Stabilized

plus

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

Make rs267606748(A;A)

Make rs267606748(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46115917

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs267606748
dbSNP (classic)	rs267606748
ClinGen	rs267606748
ebi	rs267606748
HLI	rs267606748
Exac	rs267606748
Gnomad	rs267606748
Varsome	rs267606748
LitVar	rs267606748
Map	rs267606748
PheGenI	rs267606748
Biobank	rs267606748
1000 genomes	rs267606748
hgdp	rs267606748
ensembl	rs267606748
geneview	rs267606748
scholar	rs267606748
google	rs267606748
pharmgkb	rs267606748
gwascentral	rs267606748
openSNP	rs267606748
23andMe	rs267606748
SNPshot	rs267606748
SNPdbe	rs267606748
MSV3d	rs267606748
GWAS Ctlg	rs267606748

Max Magnitude

0

ClinVar
Risk	rs267606748(A;A)
Alt	rs267606748(A;A)
Reference	Rs267606748(G;G)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 not specified
Variation	info
Gene	COL6A2
CLNDBN	Ullrich congenital muscular dystrophy 1, autosomal dominant not specified
Reversed	0
HGVS	NC_000021.8:g.47535831G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018707.28, RCV000269898.1,