rs398123371

Orientation

plus

Stabilized

plus

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

Make rs398123371(C;T)

Make rs398123371(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129297790

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs398123371
dbSNP (classic)	rs398123371
ClinGen	rs398123371
ebi	rs398123371
HLI	rs398123371
Exac	rs398123371
Gnomad	rs398123371
Varsome	rs398123371
LitVar	rs398123371
Map	rs398123371
PheGenI	rs398123371
Biobank	rs398123371
1000 genomes	rs398123371
hgdp	rs398123371
ensembl	rs398123371
geneview	rs398123371
scholar	rs398123371
google	rs398123371
pharmgkb	rs398123371
gwascentral	rs398123371
openSNP	rs398123371
23andMe	rs398123371
SNPshot	rs398123371
SNPdbe	rs398123371
MSV3d	rs398123371
GWAS Ctlg	rs398123371

Max Magnitude

0

ClinVar
Risk	rs398123371(T;T)
Alt	rs398123371(T;T)
Reference	Rs398123371(C;C)
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.129618935C>T
CLNSRC	HGMD
CLNACC	RCV000078760.3, RCV000176160.1,