rs121913571

Orientation

plus

Stabilized

plus

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

Make rs121913571(C;T)

Make rs121913571(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

129516231

Gene	LAMA2, LOC102723409

is a	snp
is	mentioned by
dbSNP	rs121913571
dbSNP (classic)	rs121913571
ClinGen	rs121913571
ebi	rs121913571
HLI	rs121913571
Exac	rs121913571
Gnomad	rs121913571
Varsome	rs121913571
LitVar	rs121913571
Map	rs121913571
PheGenI	rs121913571
Biobank	rs121913571
1000 genomes	rs121913571
hgdp	rs121913571
ensembl	rs121913571
geneview	rs121913571
scholar	rs121913571
google	rs121913571
pharmgkb	rs121913571
gwascentral	rs121913571
openSNP	rs121913571
23andMe	rs121913571
SNPshot	rs121913571
SNPdbe	rs121913571
MSV3d	rs121913571
GWAS Ctlg	rs121913571

Max Magnitude

0

OMIM	156225
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121913571(T;T)
Alt	rs121913571(T;T)
Reference	Rs121913571(C;C)
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.129837376C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015361.25, RCV000228823.1,