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rs398123380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123380(-;-)
Make rs398123380(-;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129438715
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123380
ebirs398123380
HLIrs398123380
Exacrs398123380
Varsomers398123380
Maprs398123380
PheGenIrs398123380
hapmaprs398123380
1000 genomesrs398123380
hgdprs398123380
ensemblrs398123380
gopubmedrs398123380
geneviewrs398123380
scholarrs398123380
googlers398123380
pharmgkbrs398123380
gwascentralrs398123380
openSNPrs398123380
23andMers398123380
23andMe allrs398123380
SNP Nexus

SNPshotrs398123380
SNPdbers398123380
MSV3drs398123380
GWAS Ctlgrs398123380
Max Magnitude0
ClinVar
Risk rs398123380(;)
Alt rs398123380(;)
Reference rs398123380(T;T)
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.129759860delT
CLNSRC ClinVar
CLNACC RCV000078784.4,