rs398123367

Orientation

plus

Stabilized

plus

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

Make rs398123367(A;A)

Make rs398123367(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

128883358

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123367
dbSNP (classic)	rs398123367
ClinGen	rs398123367
ebi	rs398123367
HLI	rs398123367
Exac	rs398123367
Gnomad	rs398123367
Varsome	rs398123367
LitVar	rs398123367
Map	rs398123367
PheGenI	rs398123367
Biobank	rs398123367
1000 genomes	rs398123367
hgdp	rs398123367
ensembl	rs398123367
geneview	rs398123367
scholar	rs398123367
google	rs398123367
pharmgkb	rs398123367
gwascentral	rs398123367
openSNP	rs398123367
23andMe	rs398123367
SNPshot	rs398123367
SNPdbe	rs398123367
MSV3d	rs398123367
GWAS Ctlg	rs398123367

Max Magnitude

0

ClinVar
Risk	rs398123367(A;A)
Alt	rs398123367(A;A)
Reference	Rs398123367(G;G)
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.129204503G>A
CLNSRC	HGMD
CLNACC	RCV000078745.3, RCV000173130.1,