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rs267607539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.2 Dilated cardiomyopathy
(C;G) 6.4 Emery-Dreifuss Muscular Dystrophy
(G;G) 0 common in clinvar


Make rs267607539(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position156137237
GeneLMNA
is asnp
is mentioned by
dbSNPrs267607539
dbSNP (classic)rs267607539
ClinGenrs267607539
ebirs267607539
HLIrs267607539
Exacrs267607539
Gnomadrs267607539
Varsomers267607539
LitVarrs267607539
Maprs267607539
PheGenIrs267607539
Biobankrs267607539
1000 genomesrs267607539
hgdprs267607539
ensemblrs267607539
geneviewrs267607539
scholarrs267607539
googlers267607539
pharmgkbrs267607539
gwascentralrs267607539
openSNPrs267607539
23andMers267607539
SNPshotrs267607539
SNPdbers267607539
MSV3drs267607539
GWAS Ctlgrs267607539
Max Magnitude6.4
ClinVar
Risk rs267607539(C;C)
Alt rs267607539(C;C)
Reference Rs267607539(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene LMNA
CLNDBN Limb-girdle muscular dystrophy, type 1B not provided
Reversed 0
HGVS NC_000001.10:g.156107028G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015589.26, RCV000057336.1,