rs764193290

Orientation

plus

Stabilized

plus

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

Make rs764193290(-;-)

Make rs764193290(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

237342163

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs764193290
dbSNP (classic)	rs764193290
ClinGen	rs764193290
ebi	rs764193290
HLI	rs764193290
Exac	rs764193290
Gnomad	rs764193290
Varsome	rs764193290
LitVar	rs764193290
Map	rs764193290
PheGenI	rs764193290
Biobank	rs764193290
1000 genomes	rs764193290
hgdp	rs764193290
ensembl	rs764193290
geneview	rs764193290
scholar	rs764193290
google	rs764193290
pharmgkb	rs764193290
gwascentral	rs764193290
openSNP	rs764193290
23andMe	rs764193290
SNPshot	rs764193290
SNPdbe	rs764193290
MSV3d	rs764193290
GWAS Ctlg	rs764193290

Max Magnitude

0

ClinVar
Risk	rs764193290(-;-)
Alt	rs764193290(-;-)
Reference	Rs764193290(T;T)
Significance	Probable-Pathogenic
Disease	Bethlem myopathy 1 Dystonia 27 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1 Dystonia 27 Ullrich congenital muscular dystrophy 1
Reversed	0
HGVS	NC_000002.11:g.238250806delT
CLNSRC
CLNACC	RCV000477801.1,