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rs121913576

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913576(C;T)
Make rs121913576(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129464444
GeneLAMA2
is asnp
is mentioned by
dbSNPrs121913576
ebirs121913576
HLIrs121913576
Exacrs121913576
Varsomers121913576
Maprs121913576
PheGenIrs121913576
hapmaprs121913576
1000 genomesrs121913576
hgdprs121913576
ensemblrs121913576
gopubmedrs121913576
geneviewrs121913576
scholarrs121913576
googlers121913576
pharmgkbrs121913576
gwascentralrs121913576
openSNPrs121913576
23andMers121913576
23andMe allrs121913576
SNP Nexus

SNPshotrs121913576
SNPdbers121913576
MSV3drs121913576
GWAS Ctlgrs121913576
Max Magnitude0
OMIM156225
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121913576(A,T;A,T)
Alt rs121913576(A,T;A,T)
Reference rs121913576(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy due to partial LAMA2 deficiency not provided Merosin deficient congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN Congenital muscular dystrophy due to partial LAMA2 deficiency not provided Merosin deficient congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129785589C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000015370.25, RCV000078794.3, RCV000179066.1,