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rs56984562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6.2 Dilated cardiomyopathy
Make rs56984562(C;T)
Make rs56984562(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156137666
GeneLMNA
is asnp
is mentioned by
dbSNPrs56984562
dbSNP (classic)rs56984562
ClinGenrs56984562
ebirs56984562
HLIrs56984562
Exacrs56984562
Gnomadrs56984562
Varsomers56984562
LitVarrs56984562
Maprs56984562
PheGenIrs56984562
Biobankrs56984562
1000 genomesrs56984562
hgdprs56984562
ensemblrs56984562
geneviewrs56984562
scholarrs56984562
googlers56984562
pharmgkbrs56984562
gwascentralrs56984562
openSNPrs56984562
23andMers56984562
SNPshotrs56984562
SNPdbers56984562
MSV3drs56984562
GWAS Ctlgrs56984562
Max Magnitude6.2
ClinVar
Risk rs56984562(A;A) rs56984562(G;G) rs56984562(T;T)
Alt rs56984562(A;A) rs56984562(G;G) rs56984562(T;T)
Reference Rs56984562(C;C)
Significance Pathogenic
Disease not provided Dilated cardiomyopathy 1A Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease
Variation info
Gene LMNA
CLNDBN not provided Dilated cardiomyopathy 1A Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease, type 2
Reversed 0
HGVS NC_000001.10:g.156107457C>A; NC_000001.10:g.156107457C>G; NC_000001.10:g.156107457C>T
CLNSRC UniProtKB (protein) OMIM Allelic Variant
CLNACC RCV000057341.1, RCV000022641.22, RCV000057342.1, RCV000041325.5, RCV000057343.4, RCV000211786.1, RCV000242991.1, RCV000462793.1,