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rs398123378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123378(C;T)
Make rs398123378(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129427800
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123378
ebirs398123378
HLIrs398123378
Exacrs398123378
Varsomers398123378
Maprs398123378
PheGenIrs398123378
hapmaprs398123378
1000 genomesrs398123378
hgdprs398123378
ensemblrs398123378
gopubmedrs398123378
geneviewrs398123378
scholarrs398123378
googlers398123378
pharmgkbrs398123378
gwascentralrs398123378
openSNPrs398123378
23andMers398123378
23andMe allrs398123378
SNP Nexus

SNPshotrs398123378
SNPdbers398123378
MSV3drs398123378
GWAS Ctlgrs398123378
Max Magnitude0
ClinVar
Risk rs398123378(T;T)
Alt rs398123378(T;T)
Reference rs398123378(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.129748945C>T
CLNSRC ClinVar Emory University
CLNACC RCV000078782.3, RCV000178452.1,