rs535661345

Orientation

plus

Stabilized

plus

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

Make rs535661345(C;T)

Make rs535661345(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

237372173

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs535661345
dbSNP (classic)	rs535661345
ClinGen	rs535661345
ebi	rs535661345
HLI	rs535661345
Exac	rs535661345
Gnomad	rs535661345
Varsome	rs535661345
LitVar	rs535661345
Map	rs535661345
PheGenI	rs535661345
Biobank	rs535661345
1000 genomes	rs535661345
hgdp	rs535661345
ensembl	rs535661345
geneview	rs535661345
scholar	rs535661345
google	rs535661345
pharmgkb	rs535661345
gwascentral	rs535661345
openSNP	rs535661345
23andMe	rs535661345
SNPshot	rs535661345
SNPdbe	rs535661345
MSV3d	rs535661345
GWAS Ctlg	rs535661345

Max Magnitude

0

ClinVar
Risk	rs535661345(T;T)
Alt	rs535661345(T;T)
Reference	Rs535661345(C;C)
Significance	Probable-Pathogenic
Disease	Bethlem myopathy 1 Collagen VI-related myopathy
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1 Collagen VI-related myopathy
Reversed	0
HGVS	NC_000002.11:g.238280816C>T
CLNSRC	Illumina
CLNACC	RCV000256486.1, RCV000291174.1,