rs398123379

Orientation

plus

Stabilized

plus

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

Make rs398123379(-;-)

Make rs398123379(-;A)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129438688

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123379
dbSNP (classic)	rs398123379
ClinGen	rs398123379
ebi	rs398123379
HLI	rs398123379
Exac	rs398123379
Gnomad	rs398123379
Varsome	rs398123379
LitVar	rs398123379
Map	rs398123379
PheGenI	rs398123379
Biobank	rs398123379
1000 genomes	rs398123379
hgdp	rs398123379
ensembl	rs398123379
geneview	rs398123379
scholar	rs398123379
google	rs398123379
pharmgkb	rs398123379
gwascentral	rs398123379
openSNP	rs398123379
23andMe	rs398123379
SNPshot	rs398123379
SNPdbe	rs398123379
MSV3d	rs398123379
GWAS Ctlg	rs398123379

Max Magnitude

0

ClinVar
Risk	rs398123379(-;-)
Alt	rs398123379(-;-)
Reference	Rs398123379(A;A)
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.129759833delA
CLNSRC	ClinVar
CLNACC	RCV000078783.3, RCV000178482.1,