rs121913576

Orientation

plus

Stabilized

plus

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

Make rs121913576(C;T)

Make rs121913576(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129464444

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs121913576
dbSNP (classic)	rs121913576
ClinGen	rs121913576
ebi	rs121913576
HLI	rs121913576
Exac	rs121913576
Gnomad	rs121913576
Varsome	rs121913576
LitVar	rs121913576
Map	rs121913576
PheGenI	rs121913576
Biobank	rs121913576
1000 genomes	rs121913576
hgdp	rs121913576
ensembl	rs121913576
geneview	rs121913576
scholar	rs121913576
google	rs121913576
pharmgkb	rs121913576
gwascentral	rs121913576
openSNP	rs121913576
23andMe	rs121913576
SNPshot	rs121913576
SNPdbe	rs121913576
MSV3d	rs121913576
GWAS Ctlg	rs121913576

Max Magnitude

0

OMIM	156225
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121913576(A;A) rs121913576(T;T)
Alt	rs121913576(A;A) rs121913576(T;T)
Reference	Rs121913576(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy due to partial LAMA2 deficiency not provided Merosin deficient congenital muscular dystrophy
Variation	info
Gene	LAMA2
CLNDBN	Congenital muscular dystrophy due to partial LAMA2 deficiency not provided Merosin deficient congenital muscular dystrophy
Reversed	0
HGVS	NC_000006.11:g.129785589C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000015370.25, RCV000078794.3, RCV000179066.1,