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rs121913577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913577(A;A)
Make rs121913577(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position129297729
GeneLAMA2
is asnp
is mentioned by
dbSNPrs121913577
ebirs121913577
HLIrs121913577
Exacrs121913577
Varsomers121913577
Maprs121913577
PheGenIrs121913577
hapmaprs121913577
1000 genomesrs121913577
hgdprs121913577
ensemblrs121913577
gopubmedrs121913577
geneviewrs121913577
scholarrs121913577
googlers121913577
pharmgkbrs121913577
gwascentralrs121913577
openSNPrs121913577
23andMers121913577
23andMe allrs121913577
SNP Nexus

SNPshotrs121913577
SNPdbers121913577
MSV3drs121913577
GWAS Ctlgrs121913577
Max Magnitude0
OMIM156225
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121913577(A;A)
Alt rs121913577(A;A)
Reference rs121913577(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.129618874C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015371.24,