rs398123377

Orientation

plus

Stabilized

plus

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

Make rs398123377(-;-)

Make rs398123377(-;CTCATCT)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129402467

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123377
dbSNP (classic)	rs398123377
ClinGen	rs398123377
ebi	rs398123377
HLI	rs398123377
Exac	rs398123377
Gnomad	rs398123377
Varsome	rs398123377
LitVar	rs398123377
Map	rs398123377
PheGenI	rs398123377
Biobank	rs398123377
1000 genomes	rs398123377
hgdp	rs398123377
ensembl	rs398123377
geneview	rs398123377
scholar	rs398123377
google	rs398123377
pharmgkb	rs398123377
gwascentral	rs398123377
openSNP	rs398123377
23andMe	rs398123377
SNPshot	rs398123377
SNPdbe	rs398123377
MSV3d	rs398123377
GWAS Ctlg	rs398123377

Max Magnitude

0

ClinVar
Risk	rs398123377(-;-)
Alt	rs398123377(-;-)
Reference	Rs398123377(CTCATCT;CTCATCT)
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.129723612_129723618delCTCATCT
CLNSRC	ClinVar
CLNACC	RCV000078781.3, RCV000177968.1,