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rs397516784

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(AGA;AGA) 0 common in clinvar
Make rs397516784(-;-)
Make rs397516784(-;AGA)
ReferenceGRCh38 38.1/141
Chromosome6
Position118558961
GeneCEP85L, PLN
is asnp
is mentioned by
dbSNPrs397516784
ebirs397516784
HLIrs397516784
Exacrs397516784
Varsomers397516784
Maprs397516784
PheGenIrs397516784
hapmaprs397516784
1000 genomesrs397516784
hgdprs397516784
ensemblrs397516784
gopubmedrs397516784
geneviewrs397516784
scholarrs397516784
googlers397516784
pharmgkbrs397516784
gwascentralrs397516784
openSNPrs397516784
23andMers397516784
23andMe allrs397516784
SNP Nexus

SNPshotrs397516784
SNPdbers397516784
MSV3drs397516784
GWAS Ctlgrs397516784
Max Magnitude0
ClinVar
Risk rs397516784(;)
Alt rs397516784(;)
Reference rs397516784(AAG;AAG)
Significance Pathogenic
Disease Primary dilated cardiomyopathy Cardiomyopathy not provided Dilated cardiomyopathy 1P
Variation info
Gene CEP85L PLN
CLNDBN Primary dilated cardiomyopathy Cardiomyopathy not provided Dilated cardiomyopathy 1P
Reversed 0
HGVS NC_000006.11:g.118880124_118880126delAGA
CLNSRC ClinVar
CLNACC RCV000037582.2, RCV000183818.3, RCV000212833.1, RCV000233546.1,