rs121913573

Orientation

plus

Stabilized

plus

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

Make rs121913573(C;C)

Make rs121913573(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129287893

Gene

LAMA2

is a	snp
is	mentioned by
dbSNP	rs121913573
dbSNP (classic)	rs121913573
ClinGen	rs121913573
ebi	rs121913573
HLI	rs121913573
Exac	rs121913573
Gnomad	rs121913573
Varsome	rs121913573
LitVar	rs121913573
Map	rs121913573
PheGenI	rs121913573
Biobank	rs121913573
1000 genomes	rs121913573
hgdp	rs121913573
ensembl	rs121913573
geneview	rs121913573
scholar	rs121913573
google	rs121913573
pharmgkb	rs121913573
gwascentral	rs121913573
openSNP	rs121913573
23andMe	rs121913573
SNPshot	rs121913573
SNPdbe	rs121913573
MSV3d	rs121913573
GWAS Ctlg	rs121913573

Max Magnitude

0

OMIM	156225
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121913573(C;C)
Alt	rs121913573(C;C)
Reference	Rs121913573(T;T)
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.129609038T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015367.25, RCV000287266.1,