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rs121913573

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913573(C;C)
Make rs121913573(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129287893
GeneLAMA2
is asnp
is mentioned by
dbSNPrs121913573
ebirs121913573
HLIrs121913573
Exacrs121913573
Varsomers121913573
Maprs121913573
PheGenIrs121913573
hapmaprs121913573
1000 genomesrs121913573
hgdprs121913573
ensemblrs121913573
gopubmedrs121913573
geneviewrs121913573
scholarrs121913573
googlers121913573
pharmgkbrs121913573
gwascentralrs121913573
openSNPrs121913573
23andMers121913573
23andMe allrs121913573
SNP Nexus

SNPshotrs121913573
SNPdbers121913573
MSV3drs121913573
GWAS Ctlgrs121913573
Max Magnitude0
OMIM156225
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121913573(C;C)
Alt rs121913573(C;C)
Reference rs121913573(T;T)
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.129609038T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015367.25,