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rs121913570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913570(C;C)
Make rs121913570(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129481381
GeneLAMA2
is asnp
is mentioned by
dbSNPrs121913570
ebirs121913570
HLIrs121913570
Exacrs121913570
Varsomers121913570
Maprs121913570
PheGenIrs121913570
hapmaprs121913570
1000 genomesrs121913570
hgdprs121913570
ensemblrs121913570
gopubmedrs121913570
geneviewrs121913570
scholarrs121913570
googlers121913570
pharmgkbrs121913570
gwascentralrs121913570
openSNPrs121913570
23andMers121913570
23andMe allrs121913570
SNP Nexus

SNPshotrs121913570
SNPdbers121913570
MSV3drs121913570
GWAS Ctlgrs121913570
Max Magnitude0
OMIM156225
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913570(C;C)
Alt rs121913570(C;C)
Reference rs121913570(T;T)
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.129802526T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015364.25, RCV000228823.1,