rs398123375

Orientation

plus

Stabilized

plus

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

Make rs398123375(A;A)

Make rs398123375(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129349385

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123375
dbSNP (classic)	rs398123375
ClinGen	rs398123375
ebi	rs398123375
HLI	rs398123375
Exac	rs398123375
Gnomad	rs398123375
Varsome	rs398123375
LitVar	rs398123375
Map	rs398123375
PheGenI	rs398123375
Biobank	rs398123375
1000 genomes	rs398123375
hgdp	rs398123375
ensembl	rs398123375
geneview	rs398123375
scholar	rs398123375
google	rs398123375
pharmgkb	rs398123375
gwascentral	rs398123375
openSNP	rs398123375
23andMe	rs398123375
SNPshot	rs398123375
SNPdbe	rs398123375
MSV3d	rs398123375
GWAS Ctlg	rs398123375

Max Magnitude

0

ClinVar
Risk	rs398123375(A;A)
Alt	rs398123375(A;A)
Reference	Rs398123375(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.129670530G>A
CLNSRC	ClinVar
CLNACC	RCV000078772.3, RCV000177512.1,