rs121913575

Orientation

plus

Stabilized

plus

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

Make rs121913575(C;T)

Make rs121913575(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129353285

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs121913575
dbSNP (classic)	rs121913575
ClinGen	rs121913575
ebi	rs121913575
HLI	rs121913575
Exac	rs121913575
Gnomad	rs121913575
Varsome	rs121913575
LitVar	rs121913575
Map	rs121913575
PheGenI	rs121913575
Biobank	rs121913575
1000 genomes	rs121913575
hgdp	rs121913575
ensembl	rs121913575
geneview	rs121913575
scholar	rs121913575
google	rs121913575
pharmgkb	rs121913575
gwascentral	rs121913575
openSNP	rs121913575
23andMe	rs121913575
SNPshot	rs121913575
SNPdbe	rs121913575
MSV3d	rs121913575
GWAS Ctlg	rs121913575

Max Magnitude

0

OMIM	156225
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121913575(T;T)
Alt	rs121913575(T;T)
Reference	Rs121913575(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy due to partial LAMA2 deficiency
Variation	info
Gene	LAMA2
CLNDBN	Congenital muscular dystrophy due to partial LAMA2 deficiency
Reversed	0
HGVS	NC_000006.11:g.129674430C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015369.21,