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rs60580541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs60580541(C;T)
Make rs60580541(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156137210
GeneLMNA
is asnp
is mentioned by
dbSNPrs60580541
ebirs60580541
HLIrs60580541
Exacrs60580541
Varsomers60580541
Maprs60580541
PheGenIrs60580541
hapmaprs60580541
1000 genomesrs60580541
hgdprs60580541
ensemblrs60580541
gopubmedrs60580541
geneviewrs60580541
scholarrs60580541
googlers60580541
pharmgkbrs60580541
gwascentralrs60580541
openSNPrs60580541
23andMers60580541
23andMe allrs60580541
SNP Nexus

SNPshotrs60580541
SNPdbers60580541
MSV3drs60580541
GWAS Ctlgrs60580541
Max Magnitude0
OMIM150330
Desc
Variant0037
Relatedalso


ClinVar
Risk rs60580541(T;T)
Alt rs60580541(T;T)
Reference rs60580541(C;C)
Significance Pathogenic
Disease Mandibuloacral dysostosis not provided
Variation info
Gene LMNA
CLNDBN Mandibuloacral dysostosis not provided
Reversed 0
HGVS NC_000001.10:g.156107001C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015608.25, RCV000057332.1,