rs541928674

Orientation

plus

Stabilized

plus

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

Make rs541928674(C;T)

Make rs541928674(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

237344516

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs541928674
dbSNP (classic)	rs541928674
ClinGen	rs541928674
ebi	rs541928674
HLI	rs541928674
Exac	rs541928674
Gnomad	rs541928674
Varsome	rs541928674
LitVar	rs541928674
Map	rs541928674
PheGenI	rs541928674
Biobank	rs541928674
1000 genomes	rs541928674
hgdp	rs541928674
ensembl	rs541928674
geneview	rs541928674
scholar	rs541928674
google	rs541928674
pharmgkb	rs541928674
gwascentral	rs541928674
openSNP	rs541928674
23andMe	rs541928674
SNPshot	rs541928674
SNPdbe	rs541928674
MSV3d	rs541928674
GWAS Ctlg	rs541928674

Max Magnitude

0

ClinVar
Risk	rs541928674(T;T)
Alt	rs541928674(T;T)
Reference	Rs541928674(C;C)
Significance	Pathogenic
Disease	Dystonia 27 Collagen VI-related myopathy
Variation	info
Gene	COL6A3
CLNDBN	Dystonia 27 Collagen VI-related myopathy
Reversed	0
HGVS	NC_000002.11:g.238253159C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000172852.2, RCV000389218.1,