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rs121913569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913569(C;T)
Make rs121913569(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position129315638
GeneLAMA2
is asnp
is mentioned by
dbSNPrs121913569
ebirs121913569
HLIrs121913569
Exacrs121913569
Varsomers121913569
Maprs121913569
PheGenIrs121913569
hapmaprs121913569
1000 genomesrs121913569
hgdprs121913569
ensemblrs121913569
gopubmedrs121913569
geneviewrs121913569
scholarrs121913569
googlers121913569
pharmgkbrs121913569
gwascentralrs121913569
openSNPrs121913569
23andMers121913569
23andMe allrs121913569
SNP Nexus

SNPshotrs121913569
SNPdbers121913569
MSV3drs121913569
GWAS Ctlgrs121913569
Max Magnitude0
OMIM156225
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913569(T;T)
Alt rs121913569(T;T)
Reference rs121913569(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.129636783C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000015360.25, RCV000078765.3,