rs398123390

Orientation

plus

Stabilized

plus

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

Make rs398123390(-;AACA)

Make rs398123390(AACA;AACA)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129514488

Gene	LAMA2, LOC102723409

is a	snp
is	mentioned by
dbSNP	rs398123390
dbSNP (classic)	rs398123390
ClinGen	rs398123390
ebi	rs398123390
HLI	rs398123390
Exac	rs398123390
Gnomad	rs398123390
Varsome	rs398123390
LitVar	rs398123390
Map	rs398123390
PheGenI	rs398123390
Biobank	rs398123390
1000 genomes	rs398123390
hgdp	rs398123390
ensembl	rs398123390
geneview	rs398123390
scholar	rs398123390
google	rs398123390
pharmgkb	rs398123390
gwascentral	rs398123390
openSNP	rs398123390
23andMe	rs398123390
SNPshot	rs398123390
SNPdbe	rs398123390
MSV3d	rs398123390
GWAS Ctlg	rs398123390

Max Magnitude

0

ClinVar
Risk	rs398123390(CAAA;CAAA)
Alt	rs398123390(CAAA;CAAA)
Reference	Rs398123390(-;-)
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.129835630_129835633dupAACA
CLNSRC	HGMD
CLNACC	RCV000078807.3, RCV000179635.1,