rs121913574

Orientation

plus

Stabilized

plus

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

Make rs121913574(A;A)

Make rs121913574(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129190317

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs121913574
dbSNP (classic)	rs121913574
ClinGen	rs121913574
ebi	rs121913574
HLI	rs121913574
Exac	rs121913574
Gnomad	rs121913574
Varsome	rs121913574
LitVar	rs121913574
Map	rs121913574
PheGenI	rs121913574
Biobank	rs121913574
1000 genomes	rs121913574
hgdp	rs121913574
ensembl	rs121913574
geneview	rs121913574
scholar	rs121913574
google	rs121913574
pharmgkb	rs121913574
gwascentral	rs121913574
openSNP	rs121913574
23andMe	rs121913574
SNPshot	rs121913574
SNPdbe	rs121913574
MSV3d	rs121913574
GWAS Ctlg	rs121913574

Merged from

Rs28933096

Max Magnitude

0

OMIM	156225
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121913574(A;A)
Alt	rs121913574(A;A)
Reference	Rs121913574(G;G)
Significance	Pathogenic
Disease	Congenital muscular dystrophy due to partial LAMA2 deficiency not specified
Variation	info
Gene	LAMA2
CLNDBN	Congenital muscular dystrophy due to partial LAMA2 deficiency not specified
Reversed	0
HGVS	NC_000006.11:g.129511462G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015368.25, RCV000078747.4,