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rs121913575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913575(C;T)
Make rs121913575(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129353285
GeneLAMA2
is asnp
is mentioned by
dbSNPrs121913575
ebirs121913575
HLIrs121913575
Exacrs121913575
Varsomers121913575
Maprs121913575
PheGenIrs121913575
hapmaprs121913575
1000 genomesrs121913575
hgdprs121913575
ensemblrs121913575
gopubmedrs121913575
geneviewrs121913575
scholarrs121913575
googlers121913575
pharmgkbrs121913575
gwascentralrs121913575
openSNPrs121913575
23andMers121913575
23andMe allrs121913575
SNP Nexus

SNPshotrs121913575
SNPdbers121913575
MSV3drs121913575
GWAS Ctlgrs121913575
Max Magnitude0
OMIM156225
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121913575(T;T)
Alt rs121913575(T;T)
Reference rs121913575(C;C)
Significance Pathogenic
Disease Congenital muscular dystrophy due to partial LAMA2 deficiency
Variation info
Gene LAMA2
CLNDBN Congenital muscular dystrophy due to partial LAMA2 deficiency
Reversed 0
HGVS NC_000006.11:g.129674430C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015369.21,