rs267606749

Orientation

plus

Stabilized

plus

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

Make rs267606749(A;A)

Make rs267606749(A;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46121590

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs267606749
dbSNP (classic)	rs267606749
ClinGen	rs267606749
ebi	rs267606749
HLI	rs267606749
Exac	rs267606749
Gnomad	rs267606749
Varsome	rs267606749
LitVar	rs267606749
Map	rs267606749
PheGenI	rs267606749
Biobank	rs267606749
1000 genomes	rs267606749
hgdp	rs267606749
ensembl	rs267606749
geneview	rs267606749
scholar	rs267606749
google	rs267606749
pharmgkb	rs267606749
gwascentral	rs267606749
openSNP	rs267606749
23andMe	rs267606749
SNPshot	rs267606749
SNPdbe	rs267606749
MSV3d	rs267606749
GWAS Ctlg	rs267606749

Max Magnitude

0

ClinVar
Risk	rs267606749(A;A)
Alt	rs267606749(A;A)
Reference	Rs267606749(G;G)
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.47541504G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018708.28,