rs797044988

Orientation

minus

Stabilized

minus

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

Make rs797044988(A;C)

Make rs797044988(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

237359390

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs797044988
dbSNP (classic)	rs797044988
ClinGen	rs797044988
ebi	rs797044988
HLI	rs797044988
Exac	rs797044988
Gnomad	rs797044988
Varsome	rs797044988
LitVar	rs797044988
Map	rs797044988
PheGenI	rs797044988
Biobank	rs797044988
1000 genomes	rs797044988
hgdp	rs797044988
ensembl	rs797044988
geneview	rs797044988
scholar	rs797044988
google	rs797044988
pharmgkb	rs797044988
gwascentral	rs797044988
openSNP	rs797044988
23andMe	rs797044988
SNPshot	rs797044988
SNPdbe	rs797044988
MSV3d	rs797044988
GWAS Ctlg	rs797044988

Max Magnitude

0

ClinVar
Risk	rs797044988(C;C)
Alt	rs797044988(C;C)
Reference	Rs797044988(A;A)
Significance	Probable-Pathogenic
Disease	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1 Ullrich congenital muscular dystrophy 1
Reversed	1
HGVS	NC_000002.11:g.238268033T>G
CLNSRC
CLNACC	RCV000190463.1,