rs398123391

Orientation

plus

Stabilized

plus

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

Make rs398123391(A;A)

Make rs398123391(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129516189

Gene	LAMA2, LOC102723409

is a	snp
is	mentioned by
dbSNP	rs398123391
dbSNP (classic)	rs398123391
ClinGen	rs398123391
ebi	rs398123391
HLI	rs398123391
Exac	rs398123391
Gnomad	rs398123391
Varsome	rs398123391
LitVar	rs398123391
Map	rs398123391
PheGenI	rs398123391
Biobank	rs398123391
1000 genomes	rs398123391
hgdp	rs398123391
ensembl	rs398123391
geneview	rs398123391
scholar	rs398123391
google	rs398123391
pharmgkb	rs398123391
gwascentral	rs398123391
openSNP	rs398123391
23andMe	rs398123391
SNPshot	rs398123391
SNPdbe	rs398123391
MSV3d	rs398123391
GWAS Ctlg	rs398123391

Max Magnitude

0

ClinVar
Risk	rs398123391(A;A)
Alt	rs398123391(A;A)
Reference	Rs398123391(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.129837334G>A
CLNSRC	ClinVar
CLNACC	RCV000078808.3, RCV000179649.1,