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rs121913571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913571(C;T)
Make rs121913571(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129516231
GeneLAMA2
is asnp
is mentioned by
dbSNPrs121913571
ebirs121913571
HLIrs121913571
Exacrs121913571
Varsomers121913571
Maprs121913571
PheGenIrs121913571
hapmaprs121913571
1000 genomesrs121913571
hgdprs121913571
ensemblrs121913571
gopubmedrs121913571
geneviewrs121913571
scholarrs121913571
googlers121913571
pharmgkbrs121913571
gwascentralrs121913571
openSNPrs121913571
23andMers121913571
23andMe allrs121913571
SNP Nexus

SNPshotrs121913571
SNPdbers121913571
MSV3drs121913571
GWAS Ctlgrs121913571
Max Magnitude0
OMIM156225
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121913571(T;T)
Alt rs121913571(T;T)
Reference rs121913571(C;C)
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.129837376C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015361.25, RCV000228823.1,