rs267606747

Orientation

plus

Stabilized

plus

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

Make rs267606747(C;C)

Make rs267606747(C;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46126144

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs267606747
dbSNP (classic)	rs267606747
ClinGen	rs267606747
ebi	rs267606747
HLI	rs267606747
Exac	rs267606747
Gnomad	rs267606747
Varsome	rs267606747
LitVar	rs267606747
Map	rs267606747
PheGenI	rs267606747
Biobank	rs267606747
1000 genomes	rs267606747
hgdp	rs267606747
ensembl	rs267606747
geneview	rs267606747
scholar	rs267606747
google	rs267606747
pharmgkb	rs267606747
gwascentral	rs267606747
openSNP	rs267606747
23andMe	rs267606747
SNPshot	rs267606747
SNPdbe	rs267606747
MSV3d	rs267606747
GWAS Ctlg	rs267606747

Max Magnitude

0

ClinVar
Risk	rs267606747(C;C)
Alt	rs267606747(C;C)
Reference	Rs267606747(T;T)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A2
CLNDBN	Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000021.8:g.47546058T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018706.28,