rs121913577

Orientation

plus

Stabilized

plus

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

Make rs121913577(A;A)

Make rs121913577(A;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129297729

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs121913577
dbSNP (classic)	rs121913577
ClinGen	rs121913577
ebi	rs121913577
HLI	rs121913577
Exac	rs121913577
Gnomad	rs121913577
Varsome	rs121913577
LitVar	rs121913577
Map	rs121913577
PheGenI	rs121913577
Biobank	rs121913577
1000 genomes	rs121913577
hgdp	rs121913577
ensembl	rs121913577
geneview	rs121913577
scholar	rs121913577
google	rs121913577
pharmgkb	rs121913577
gwascentral	rs121913577
openSNP	rs121913577
23andMe	rs121913577
SNPshot	rs121913577
SNPdbe	rs121913577
MSV3d	rs121913577
GWAS Ctlg	rs121913577

Max Magnitude

0

OMIM	156225
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121913577(A;A)
Alt	rs121913577(A;A)
Reference	Rs121913577(C;C)
Significance	Pathogenic
Disease	Merosin deficient congenital muscular dystrophy
Variation	info
Gene	LAMA2
CLNDBN	Merosin deficient congenital muscular dystrophy
Reversed	0
HGVS	NC_000006.11:g.129618874C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015371.24,