rs552651651

Orientation

plus

Stabilized

plus

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

Make rs552651651(C;T)

Make rs552651651(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

237334727

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs552651651
dbSNP (classic)	rs552651651
ClinGen	rs552651651
ebi	rs552651651
HLI	rs552651651
Exac	rs552651651
Gnomad	rs552651651
Varsome	rs552651651
LitVar	rs552651651
Map	rs552651651
PheGenI	rs552651651
Biobank	rs552651651
1000 genomes	rs552651651
hgdp	rs552651651
ensembl	rs552651651
geneview	rs552651651
scholar	rs552651651
google	rs552651651
pharmgkb	rs552651651
gwascentral	rs552651651
openSNP	rs552651651
23andMe	rs552651651
SNPshot	rs552651651
SNPdbe	rs552651651
MSV3d	rs552651651
GWAS Ctlg	rs552651651

Max Magnitude

0

ClinVar
Risk	rs552651651(T;T)
Alt	rs552651651(T;T)
Reference	Rs552651651(C;C)
Significance	Pathogenic
Disease	Dystonia 27 Collagen VI-related myopathy not specified
Variation	info
Gene	COL6A3
CLNDBN	Dystonia 27 Collagen VI-related myopathy not specified
Reversed	0
HGVS	NC_000002.11:g.238243370C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000172849.2, RCV000277291.1, RCV000374757.1,