rs398123373

Orientation

plus

Stabilized

plus

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

Make rs398123373(C;T)

Make rs398123373(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129316089

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123373
dbSNP (classic)	rs398123373
ClinGen	rs398123373
ebi	rs398123373
HLI	rs398123373
Exac	rs398123373
Gnomad	rs398123373
Varsome	rs398123373
LitVar	rs398123373
Map	rs398123373
PheGenI	rs398123373
Biobank	rs398123373
1000 genomes	rs398123373
hgdp	rs398123373
ensembl	rs398123373
geneview	rs398123373
scholar	rs398123373
google	rs398123373
pharmgkb	rs398123373
gwascentral	rs398123373
openSNP	rs398123373
23andMe	rs398123373
SNPshot	rs398123373
SNPdbe	rs398123373
MSV3d	rs398123373
GWAS Ctlg	rs398123373

Max Magnitude

0

ClinVar
Risk	rs398123373(T;T)
Alt	rs398123373(T;T)
Reference	Rs398123373(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.129637234C>T
CLNSRC	HGMD
CLNACC	RCV000078767.3, RCV000176719.1,