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rs267607577

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GCAC) 6.2 Dilated cardiomyopathy
Make rs267607577(GCAC;GCAC)
ReferenceGRCh38 38.1/142
Chromosome1
Position156136363
GeneLMNA
is asnp
is mentioned by
dbSNPrs267607577
dbSNP (classic)rs267607577
ClinGenrs267607577
ebirs267607577
HLIrs267607577
Exacrs267607577
Gnomadrs267607577
Varsomers267607577
LitVarrs267607577
Maprs267607577
PheGenIrs267607577
Biobankrs267607577
1000 genomesrs267607577
hgdprs267607577
ensemblrs267607577
geneviewrs267607577
scholarrs267607577
googlers267607577
pharmgkbrs267607577
gwascentralrs267607577
openSNPrs267607577
23andMers267607577
SNPshotrs267607577
SNPdbers267607577
MSV3drs267607577
GWAS Ctlgrs267607577
Max Magnitude6.2

aka c.1296_1299dupGCAC and also c.1296_1299delGCACGCAC; both are annotated in ClinVar as pathogenic or likely pathogenic for cardiomyopathy

ClinVar
Risk rs267607577(GCAC;GCAC)
Alt rs267607577(GCAC;GCAC)
Reference Rs267607577(-;-)
Significance Pathogenic
Disease not provided Cardiomyopathy
Variation info
Gene LMNA
CLNDBN not provided Cardiomyopathy
Reversed 0
HGVS NC_000001.10:g.156106151_156106154dupGCAC
CLNSRC ClinVar Epithelial Biology
CLNACC RCV000057266.3, RCV000157296.1,