Have questions? Visit https://www.reddit.com/r/SNPedia

rs60934003

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5
(C;T) 4
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position156137213
GeneLMNA
is asnp
is mentioned by
dbSNPrs60934003
ebirs60934003
HLIrs60934003
Exacrs60934003
Varsomers60934003
Maprs60934003
PheGenIrs60934003
hapmaprs60934003
1000 genomesrs60934003
hgdprs60934003
ensemblrs60934003
gopubmedrs60934003
geneviewrs60934003
scholarrs60934003
googlers60934003
pharmgkbrs60934003
gwascentralrs60934003
openSNPrs60934003
23andMers60934003
23andMe allrs60934003
SNP Nexus

SNPshotrs60934003
SNPdbers60934003
MSV3drs60934003
GWAS Ctlgrs60934003
Max Magnitude5
OMIM150330
Desc
Variant0004
Relatedalso


ClinVar
Risk rs60934003(C;C)
Alt rs60934003(C;C)
Reference rs60934003(T;T)
Significance Pathogenic
Disease Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided
Variation info
Gene LMNA
CLNDBN Benign scapuloperoneal muscular dystrophy with cardiomyopathy not provided
Reversed 0
HGVS NC_000001.10:g.156107004T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015571.25, RCV000057333.1,


This is one of the mutations described at