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rs28933091

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28933091(C;G)
Make rs28933091(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156134474
GeneLMNA
is asnp
is mentioned by
dbSNPrs28933091
ebirs28933091
HLIrs28933091
Exacrs28933091
Varsomers28933091
Maprs28933091
PheGenIrs28933091
hapmaprs28933091
1000 genomesrs28933091
hgdprs28933091
ensemblrs28933091
gopubmedrs28933091
geneviewrs28933091
scholarrs28933091
googlers28933091
pharmgkbrs28933091
gwascentralrs28933091
openSNPrs28933091
23andMers28933091
23andMe allrs28933091
SNP Nexus

SNPshotrs28933091
SNPdbers28933091
MSV3drs28933091
GWAS Ctlgrs28933091
Max Magnitude0
OMIM150330
DescCARDIOMYOPATHY, DILATED, 1A
Variant0007
Relatedalso
ClinVar
Risk rs28933091(A,G;A,G)
Alt rs28933091(A,G;A,G)
Reference rs28933091(C;C)
Significance Pathogenic
Disease not provided Dilated cardiomyopathy 1A Primary dilated cardiomyopathy
Variation info
Gene LMNA
CLNDBN not provided Dilated cardiomyopathy 1A Primary dilated cardiomyopathy
Reversed 0
HGVS NC_000001.10:g.156104265C>A; NC_000001.10:g.156104265C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000057424.1, RCV000015572.27, RCV000057425.2, RCV000211789.1,


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