rs398123378

Orientation

plus

Stabilized

plus

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

Make rs398123378(C;T)

Make rs398123378(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129427800

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123378
dbSNP (classic)	rs398123378
ClinGen	rs398123378
ebi	rs398123378
HLI	rs398123378
Exac	rs398123378
Gnomad	rs398123378
Varsome	rs398123378
LitVar	rs398123378
Map	rs398123378
PheGenI	rs398123378
Biobank	rs398123378
1000 genomes	rs398123378
hgdp	rs398123378
ensembl	rs398123378
geneview	rs398123378
scholar	rs398123378
google	rs398123378
pharmgkb	rs398123378
gwascentral	rs398123378
openSNP	rs398123378
23andMe	rs398123378
SNPshot	rs398123378
SNPdbe	rs398123378
MSV3d	rs398123378
GWAS Ctlg	rs398123378

Max Magnitude

0

ClinVar
Risk	rs398123378(T;T)
Alt	rs398123378(T;T)
Reference	Rs398123378(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.129748945C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000078782.3, RCV000178452.1,