rs780921503

Orientation

plus

Stabilized

plus

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

Make rs780921503(-;-)

Make rs780921503(-;C)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

237388133

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs780921503
dbSNP (classic)	rs780921503
ClinGen	rs780921503
ebi	rs780921503
HLI	rs780921503
Exac	rs780921503
Gnomad	rs780921503
Varsome	rs780921503
LitVar	rs780921503
Map	rs780921503
PheGenI	rs780921503
Biobank	rs780921503
1000 genomes	rs780921503
hgdp	rs780921503
ensembl	rs780921503
geneview	rs780921503
scholar	rs780921503
google	rs780921503
pharmgkb	rs780921503
gwascentral	rs780921503
openSNP	rs780921503
23andMe	rs780921503
SNPshot	rs780921503
SNPdbe	rs780921503
MSV3d	rs780921503
GWAS Ctlg	rs780921503

Max Magnitude

0

ClinVar
Risk	rs780921503(-;-)
Alt	rs780921503(-;-)
Reference	Rs780921503(C;C)
Significance	Pathogenic
Disease	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
Reversed	0
HGVS	NC_000002.11:g.238296776delC
CLNSRC
CLNACC	RCV000322270.1, RCV000374858.1,