rs398123368

Orientation

plus

Stabilized

plus

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

Make rs398123368(G;T)

Make rs398123368(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129049989

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123368
dbSNP (classic)	rs398123368
ClinGen	rs398123368
ebi	rs398123368
HLI	rs398123368
Exac	rs398123368
Gnomad	rs398123368
Varsome	rs398123368
LitVar	rs398123368
Map	rs398123368
PheGenI	rs398123368
Biobank	rs398123368
1000 genomes	rs398123368
hgdp	rs398123368
ensembl	rs398123368
geneview	rs398123368
scholar	rs398123368
google	rs398123368
pharmgkb	rs398123368
gwascentral	rs398123368
openSNP	rs398123368
23andMe	rs398123368
SNPshot	rs398123368
SNPdbe	rs398123368
MSV3d	rs398123368
GWAS Ctlg	rs398123368

Max Magnitude

0

ClinVar
Risk	rs398123368(T;T)
Alt	rs398123368(T;T)
Reference	Rs398123368(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.129371134G>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000078751.3, RCV000175608.1,