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rs398123387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123387(-;-)
Make rs398123387(-;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position129478777
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123387
ebirs398123387
HLIrs398123387
Exacrs398123387
Varsomers398123387
Maprs398123387
PheGenIrs398123387
hapmaprs398123387
1000 genomesrs398123387
hgdprs398123387
ensemblrs398123387
gopubmedrs398123387
geneviewrs398123387
scholarrs398123387
googlers398123387
pharmgkbrs398123387
gwascentralrs398123387
openSNPrs398123387
23andMers398123387
23andMe allrs398123387
SNP Nexus

SNPshotrs398123387
SNPdbers398123387
MSV3drs398123387
GWAS Ctlgrs398123387
Max Magnitude0
ClinVar
Risk rs398123387(;)
Alt rs398123387(;)
Reference rs398123387(C;C)
Significance Pathogenic
Disease not provided Merosin deficient congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN not provided Merosin deficient congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129799922delC
CLNSRC ClinVar
CLNACC RCV000078798.3, RCV000179138.1,