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

rs28933090

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 6.2 Dilated cardiomyopathy
(T;T) 0 common in clinvar


Make rs28933090(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156115172
GeneLMNA
is asnp
is mentioned by
dbSNPrs28933090
dbSNP (classic)rs28933090
ClinGenrs28933090
ebirs28933090
HLIrs28933090
Exacrs28933090
Gnomadrs28933090
Varsomers28933090
LitVarrs28933090
Maprs28933090
PheGenIrs28933090
Biobankrs28933090
1000 genomesrs28933090
hgdprs28933090
ensemblrs28933090
geneviewrs28933090
scholarrs28933090
googlers28933090
pharmgkbrs28933090
gwascentralrs28933090
openSNPrs28933090
23andMers28933090
SNPshotrs28933090
SNPdbers28933090
MSV3drs28933090
GWAS Ctlgrs28933090
Max Magnitude6.2
? (G;G) (G;T) (T;T) 28


OMIM150330
DescCARDIOMYOPATHY, DILATED, 1A
Variant0006
Relatedalso


ClinVar
Risk rs28933090(A;A) rs28933090(G;G)
Alt rs28933090(A;A) rs28933090(G;G)
Reference Rs28933090(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Dilated cardiomyopathy 1A not provided
Variation info
Gene LMNA
CLNDBN Charcot-Marie-Tooth disease, type 2 Dilated cardiomyopathy 1A not provided
Reversed 0
HGVS NC_000001.10:g.156084963T>A; NC_000001.10:g.156084963T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000225805.1, RCV000015568.25, RCV000057381.1,