rs121913570

Orientation

plus

Stabilized

plus

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

Make rs121913570(C;C)

Make rs121913570(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129481381

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs121913570
dbSNP (classic)	rs121913570
ClinGen	rs121913570
ebi	rs121913570
HLI	rs121913570
Exac	rs121913570
Gnomad	rs121913570
Varsome	rs121913570
LitVar	rs121913570
Map	rs121913570
PheGenI	rs121913570
Biobank	rs121913570
1000 genomes	rs121913570
hgdp	rs121913570
ensembl	rs121913570
geneview	rs121913570
scholar	rs121913570
google	rs121913570
pharmgkb	rs121913570
gwascentral	rs121913570
openSNP	rs121913570
23andMe	rs121913570
SNPshot	rs121913570
SNPdbe	rs121913570
MSV3d	rs121913570
GWAS Ctlg	rs121913570

Max Magnitude

0

OMIM	156225
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121913570(C;C)
Alt	rs121913570(C;C)
Reference	Rs121913570(T;T)
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.129802526T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015364.25, RCV000228823.1,