rs182976977

Orientation

plus

Stabilized

plus

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

Make rs182976977(C;C)

Make rs182976977(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

237333533

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs182976977
dbSNP (classic)	rs182976977
ClinGen	rs182976977
ebi	rs182976977
HLI	rs182976977
Exac	rs182976977
Gnomad	rs182976977
Varsome	rs182976977
LitVar	rs182976977
Map	rs182976977
PheGenI	rs182976977
Biobank	rs182976977
1000 genomes	rs182976977
hgdp	rs182976977
ensembl	rs182976977
geneview	rs182976977
scholar	rs182976977
google	rs182976977
pharmgkb	rs182976977
gwascentral	rs182976977
openSNP	rs182976977
23andMe	rs182976977
SNPshot	rs182976977
SNPdbe	rs182976977
MSV3d	rs182976977
GWAS Ctlg	rs182976977

Max Magnitude

0

ClinVar
Risk	rs182976977(A;A) rs182976977(C;C)
Alt	rs182976977(A;A) rs182976977(C;C)
Reference	Rs182976977(G;G)
Significance	Pathogenic
Disease	Dystonia 27 not specified Collagen VI-related myopathy
Variation	info
Gene	COL6A3
CLNDBN	Dystonia 27 not specified Collagen VI-related myopathy
Reversed	0
HGVS	NC_000002.11:g.238242176G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000172850.2, RCV000272249.2, RCV000403938.1,