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rs398123390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123390(-;-)
Make rs398123390(-;AACA)
Make rs398123390(AACA;AACA)
ReferenceGRCh38 38.1/141
Chromosome6
Position129514488
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123390
ebirs398123390
HLIrs398123390
Exacrs398123390
Varsomers398123390
Maprs398123390
PheGenIrs398123390
hapmaprs398123390
1000 genomesrs398123390
hgdprs398123390
ensemblrs398123390
gopubmedrs398123390
geneviewrs398123390
scholarrs398123390
googlers398123390
pharmgkbrs398123390
gwascentralrs398123390
openSNPrs398123390
23andMers398123390
23andMe allrs398123390
SNP Nexus

SNPshotrs398123390
SNPdbers398123390
MSV3drs398123390
GWAS Ctlgrs398123390
Max Magnitude0
ClinVar
Risk rs398123390(CAAA;CAAA)
Alt rs398123390(CAAA;CAAA)
Reference rs398123390(;)
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.129835630_129835633dupAACA
CLNSRC HGMD
CLNACC RCV000078807.3, RCV000179635.1,