rs121913569

Orientation

plus

Stabilized

plus

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

Make rs121913569(C;T)

Make rs121913569(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129315638

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs121913569
dbSNP (classic)	rs121913569
ClinGen	rs121913569
ebi	rs121913569
HLI	rs121913569
Exac	rs121913569
Gnomad	rs121913569
Varsome	rs121913569
LitVar	rs121913569
Map	rs121913569
PheGenI	rs121913569
Biobank	rs121913569
1000 genomes	rs121913569
hgdp	rs121913569
ensembl	rs121913569
geneview	rs121913569
scholar	rs121913569
google	rs121913569
pharmgkb	rs121913569
gwascentral	rs121913569
openSNP	rs121913569
23andMe	rs121913569
SNPshot	rs121913569
SNPdbe	rs121913569
MSV3d	rs121913569
GWAS Ctlg	rs121913569

Max Magnitude

0

OMIM	156225
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121913569(T;T)
Alt	rs121913569(T;T)
Reference	Rs121913569(C;C)
Significance	Pathogenic
Disease	Merosin deficient congenital muscular dystrophy not provided
Variation	info
Gene	LAMA2
CLNDBN	Merosin deficient congenital muscular dystrophy not provided
Reversed	0
HGVS	NC_000006.11:g.129636783C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000015360.25, RCV000078765.3,