rs886042623

Orientation

plus

Stabilized

plus

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

Chromosome

2

Position

237341119

Gene

COL6A3

is a	snp
is	mentioned by
dbSNP	rs886042623
dbSNP (classic)	rs886042623
ClinGen	rs886042623
ebi	rs886042623
HLI	rs886042623
Exac	rs886042623
Gnomad	rs886042623
Varsome	rs886042623
LitVar	rs886042623
Map	rs886042623
PheGenI	rs886042623
Biobank	rs886042623
1000 genomes	rs886042623
hgdp	rs886042623
ensembl	rs886042623
geneview	rs886042623
scholar	rs886042623
google	rs886042623
pharmgkb	rs886042623
gwascentral	rs886042623
openSNP	rs886042623
23andMe	rs886042623
SNPshot	rs886042623
SNPdbe	rs886042623
MSV3d	rs886042623
GWAS Ctlg	rs886042623

Max Magnitude

0

ClinVar
Risk	rs886042623(-;-)
Alt	rs886042623(-;-)
Reference	Rs886042623(AA;AA)
Significance	Pathogenic
Disease	Bethlem myopathy 1
Variation	info
Gene	COL6A3
CLNDBN	Bethlem myopathy 1
Reversed	0
HGVS	NC_000002.11:g.238249762_238249763delAA
CLNSRC
CLNACC	RCV000295410.1,