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rs398123373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123373(C;T)
Make rs398123373(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129316089
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123373
ebirs398123373
HLIrs398123373
Exacrs398123373
Varsomers398123373
Maprs398123373
PheGenIrs398123373
hapmaprs398123373
1000 genomesrs398123373
hgdprs398123373
ensemblrs398123373
gopubmedrs398123373
geneviewrs398123373
scholarrs398123373
googlers398123373
pharmgkbrs398123373
gwascentralrs398123373
openSNPrs398123373
23andMers398123373
23andMe allrs398123373
SNP Nexus

SNPshotrs398123373
SNPdbers398123373
MSV3drs398123373
GWAS Ctlgrs398123373
Max Magnitude0
ClinVar
Risk rs398123373(T;T)
Alt rs398123373(T;T)
Reference rs398123373(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.129637234C>T
CLNSRC HGMD
CLNACC RCV000078767.3, RCV000176719.1,