rs398123372

Orientation

plus

Stabilized

plus

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

Make rs398123372(-;-)

Make rs398123372(-;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129315550

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123372
dbSNP (classic)	rs398123372
ClinGen	rs398123372
ebi	rs398123372
HLI	rs398123372
Exac	rs398123372
Gnomad	rs398123372
Varsome	rs398123372
LitVar	rs398123372
Map	rs398123372
PheGenI	rs398123372
Biobank	rs398123372
1000 genomes	rs398123372
hgdp	rs398123372
ensembl	rs398123372
geneview	rs398123372
scholar	rs398123372
google	rs398123372
pharmgkb	rs398123372
gwascentral	rs398123372
openSNP	rs398123372
23andMe	rs398123372
SNPshot	rs398123372
SNPdbe	rs398123372
MSV3d	rs398123372
GWAS Ctlg	rs398123372

Max Magnitude

0

ClinVar
Risk	rs398123372(-;-)
Alt	rs398123372(-;-)
Reference	Rs398123372(T;T)
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.129636695delT
CLNSRC	HGMD
CLNACC	RCV000078764.3, RCV000176527.2,