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rs80338938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338938(A;A)
Make rs80338938(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position156137756
GeneLMNA
is asnp
is mentioned by
dbSNPrs80338938
ebirs80338938
HLIrs80338938
Exacrs80338938
Varsomers80338938
Maprs80338938
PheGenIrs80338938
hapmaprs80338938
1000 genomesrs80338938
hgdprs80338938
ensemblrs80338938
gopubmedrs80338938
geneviewrs80338938
scholarrs80338938
googlers80338938
pharmgkbrs80338938
gwascentralrs80338938
openSNPrs80338938
23andMers80338938
23andMe allrs80338938
SNP Nexus

SNPshotrs80338938
SNPdbers80338938
MSV3drs80338938
GWAS Ctlgrs80338938
Max Magnitude0
OMIM150330
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80338938(A,T;A,T)
Alt rs80338938(A,T;A,T)
Reference rs80338938(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1A not provided
Variation info
Gene LMNA
CLNDBN Dilated cardiomyopathy 1A not provided
Reversed 0
HGVS NC_000001.10:g.156107547C>A; NC_000001.10:g.156107547C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015574.25, RCV000057044.1, RCV000057045.1,


[PMID 10580070] Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.