rs398123387

Orientation

plus

Stabilized

plus

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

Make rs398123387(-;-)

Make rs398123387(-;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129478777

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123387
dbSNP (classic)	rs398123387
ClinGen	rs398123387
ebi	rs398123387
HLI	rs398123387
Exac	rs398123387
Gnomad	rs398123387
Varsome	rs398123387
LitVar	rs398123387
Map	rs398123387
PheGenI	rs398123387
Biobank	rs398123387
1000 genomes	rs398123387
hgdp	rs398123387
ensembl	rs398123387
geneview	rs398123387
scholar	rs398123387
google	rs398123387
pharmgkb	rs398123387
gwascentral	rs398123387
openSNP	rs398123387
23andMe	rs398123387
SNPshot	rs398123387
SNPdbe	rs398123387
MSV3d	rs398123387
GWAS Ctlg	rs398123387

Max Magnitude

0

ClinVar
Risk	rs398123387(-;-)
Alt	rs398123387(-;-)
Reference	Rs398123387(C;C)
Significance	Pathogenic
Disease	not provided Merosin deficient congenital muscular dystrophy
Variation	info
Gene	LAMA2
CLNDBN	not provided Merosin deficient congenital muscular dystrophy
Reversed	0
HGVS	NC_000006.11:g.129799922delC
CLNSRC	ClinVar
CLNACC	RCV000078798.3, RCV000179138.1,