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rs61046466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61046466(C;T)
Make rs61046466(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156114934
GeneLMNA
is asnp
is mentioned by
dbSNPrs61046466
ebirs61046466
HLIrs61046466
Exacrs61046466
Varsomers61046466
Maprs61046466
PheGenIrs61046466
hapmaprs61046466
1000 genomesrs61046466
hgdprs61046466
ensemblrs61046466
gopubmedrs61046466
geneviewrs61046466
scholarrs61046466
googlers61046466
pharmgkbrs61046466
gwascentralrs61046466
openSNPrs61046466
23andMers61046466
23andMe allrs61046466
SNP Nexus

SNPshotrs61046466
SNPdbers61046466
MSV3drs61046466
GWAS Ctlgrs61046466
Max Magnitude0
OMIM150330
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61046466(T;T)
Alt rs61046466(T;T)
Reference rs61046466(C;C)
Significance Pathogenic
Disease Benign scapuloperoneal muscular dystrophy with cardiomyopathy Primary dilated cardiomyopathy not provided
Variation info
Gene LMNA
CLNDBN Benign scapuloperoneal muscular dystrophy with cardiomyopathy Primary dilated cardiomyopathy not provided
Reversed 0
HGVS NC_000001.10:g.156084725C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015564.22, RCV000041328.2, RCV000057350.1,



[PMID 10080180] Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.