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rs121913572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913572(C;T)
Make rs121913572(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129481422
GeneLAMA2
is asnp
is mentioned by
dbSNPrs121913572
ebirs121913572
HLIrs121913572
Exacrs121913572
Varsomers121913572
Maprs121913572
PheGenIrs121913572
hapmaprs121913572
1000 genomesrs121913572
hgdprs121913572
ensemblrs121913572
gopubmedrs121913572
geneviewrs121913572
scholarrs121913572
googlers121913572
pharmgkbrs121913572
gwascentralrs121913572
openSNPrs121913572
23andMers121913572
23andMe allrs121913572
SNP Nexus

SNPshotrs121913572
SNPdbers121913572
MSV3drs121913572
GWAS Ctlgrs121913572
Max Magnitude0
OMIM156225
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121913572(T;T)
Alt rs121913572(T;T)
Reference rs121913572(C;C)
Significance Pathogenic
Disease Merosin deficient congenital muscular dystrophy not provided
Variation info
Gene LAMA2
CLNDBN Merosin deficient congenital muscular dystrophy not provided
Reversed 0
HGVS NC_000006.11:g.129802567C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000015366.25, RCV000078799.3,