rs267606746

Orientation

plus

Stabilized

plus

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

Make rs267606746(A;A)

Make rs267606746(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

45989120

Gene

COL6A1

is a	snp
is	mentioned by
dbSNP	rs267606746
dbSNP (classic)	rs267606746
ClinGen	rs267606746
ebi	rs267606746
HLI	rs267606746
Exac	rs267606746
Gnomad	rs267606746
Varsome	rs267606746
LitVar	rs267606746
Map	rs267606746
PheGenI	rs267606746
Biobank	rs267606746
1000 genomes	rs267606746
hgdp	rs267606746
ensembl	rs267606746
geneview	rs267606746
scholar	rs267606746
google	rs267606746
pharmgkb	rs267606746
gwascentral	rs267606746
openSNP	rs267606746
23andMe	rs267606746
SNPshot	rs267606746
SNPdbe	rs267606746
MSV3d	rs267606746
GWAS Ctlg	rs267606746

Max Magnitude

0

ClinVar
Risk	rs267606746(A;A)
Alt	rs267606746(A;A)
Reference	Rs267606746(G;G)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A1
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47409034G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018722.28,