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rs60458016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs60458016(A;A)
Make rs60458016(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156136036
GeneLMNA
is asnp
is mentioned by
dbSNPrs60458016
ebirs60458016
HLIrs60458016
Exacrs60458016
Varsomers60458016
Maprs60458016
PheGenIrs60458016
hapmaprs60458016
1000 genomesrs60458016
hgdprs60458016
ensemblrs60458016
gopubmedrs60458016
geneviewrs60458016
scholarrs60458016
googlers60458016
pharmgkbrs60458016
gwascentralrs60458016
openSNPrs60458016
23andMers60458016
23andMe allrs60458016
SNP Nexus

SNPshotrs60458016
SNPdbers60458016
MSV3drs60458016
GWAS Ctlgrs60458016
Max Magnitude0
OMIM150330
Desc
Variant0049
Relatedalso


ClinVar
Risk rs60458016(A,T;A,T)
Alt rs60458016(A,T;A,T)
Reference rs60458016(G;G)
Significance Pathogenic
Disease Benign scapuloperoneal muscular dystrophy with cardiomyopathy Congenital muscular dystrophy Limb-girdle muscular dystrophy not provided
Variation info
Gene LMNA
CLNDBN Benign scapuloperoneal muscular dystrophy with cardiomyopathy Congenital muscular dystrophy, LMNA-related Limb-girdle muscular dystrophy, type 1B not provided
Reversed 0
HGVS NC_000001.10:g.156105827G>A; NC_000001.10:g.156105827G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015622.26, RCV000015623.26, RCV000015624.26, RCV000057227.1, RCV000057228.1,