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rs398123372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123372(-;-)
Make rs398123372(-;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129315550
GeneLAMA2
is asnp
is mentioned by
dbSNPrs398123372
ebirs398123372
HLIrs398123372
Exacrs398123372
Varsomers398123372
Maprs398123372
PheGenIrs398123372
hapmaprs398123372
1000 genomesrs398123372
hgdprs398123372
ensemblrs398123372
gopubmedrs398123372
geneviewrs398123372
scholarrs398123372
googlers398123372
pharmgkbrs398123372
gwascentralrs398123372
openSNPrs398123372
23andMers398123372
23andMe allrs398123372
SNP Nexus

SNPshotrs398123372
SNPdbers398123372
MSV3drs398123372
GWAS Ctlgrs398123372
Max Magnitude0
ClinVar
Risk rs398123372(;)
Alt rs398123372(;)
Reference rs398123372(T;T)
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.129636695delT
CLNSRC HGMD
CLNACC RCV000078764.3, RCV000176527.1,