rs398123380

Orientation

plus

Stabilized

plus

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

Make rs398123380(-;-)

Make rs398123380(-;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129438715

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123380
dbSNP (classic)	rs398123380
ClinGen	rs398123380
ebi	rs398123380
HLI	rs398123380
Exac	rs398123380
Gnomad	rs398123380
Varsome	rs398123380
LitVar	rs398123380
Map	rs398123380
PheGenI	rs398123380
Biobank	rs398123380
1000 genomes	rs398123380
hgdp	rs398123380
ensembl	rs398123380
geneview	rs398123380
scholar	rs398123380
google	rs398123380
pharmgkb	rs398123380
gwascentral	rs398123380
openSNP	rs398123380
23andMe	rs398123380
SNPshot	rs398123380
SNPdbe	rs398123380
MSV3d	rs398123380
GWAS Ctlg	rs398123380

Max Magnitude

0

ClinVar
Risk	rs398123380(-;-)
Alt	rs398123380(-;-)
Reference	Rs398123380(T;T)
Significance	Pathogenic
Disease	Merosin deficient congenital muscular dystrophy
Variation	info
Gene	LAMA2
CLNDBN	Merosin deficient congenital muscular dystrophy
Reversed	0
HGVS	NC_000006.11:g.129759860delT
CLNSRC	ClinVar
CLNACC	RCV000078784.4,