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rs398123371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123371(C;T)
Make rs398123371(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129297790
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123371
ebirs398123371
HLIrs398123371
Exacrs398123371
Varsomers398123371
Maprs398123371
PheGenIrs398123371
hapmaprs398123371
1000 genomesrs398123371
hgdprs398123371
ensemblrs398123371
gopubmedrs398123371
geneviewrs398123371
scholarrs398123371
googlers398123371
pharmgkbrs398123371
gwascentralrs398123371
openSNPrs398123371
23andMers398123371
23andMe allrs398123371
SNP Nexus

SNPshotrs398123371
SNPdbers398123371
MSV3drs398123371
GWAS Ctlgrs398123371
Max Magnitude0
ClinVar
Risk rs398123371(T;T)
Alt rs398123371(T;T)
Reference rs398123371(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.129618935C>T
CLNSRC HGMD
CLNACC RCV000078760.3, RCV000176160.1,