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rs397516992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TAAATGGGG;TAAATGGGG) 0 common in clinvar
Make rs397516992(ATTTAGTT;ATTTAGTT)
Make rs397516992(ATTTAGTT;TAAATGGGG)
ReferenceGRCh38 38.1/141
Chromosome12
Position32850829
GenePKP2
is asnp
is mentioned by
dbSNPrs397516992
ebirs397516992
HLIrs397516992
Exacrs397516992
Varsomers397516992
Maprs397516992
PheGenIrs397516992
hapmaprs397516992
1000 genomesrs397516992
hgdprs397516992
ensemblrs397516992
gopubmedrs397516992
geneviewrs397516992
scholarrs397516992
googlers397516992
pharmgkbrs397516992
gwascentralrs397516992
openSNPrs397516992
23andMers397516992
23andMe allrs397516992
SNP Nexus

SNPshotrs397516992
SNPdbers397516992
MSV3drs397516992
GWAS Ctlgrs397516992
Max Magnitude0
ClinVar
Risk rs397516992(ATTTAGTT;ATTTAGTT)
Alt rs397516992(ATTTAGTT;ATTTAGTT)
Reference rs397516992(TAAATGGGG;TAAATGGGG)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.33003763_33003771delCCCCATTTAinsAACTAAAT
CLNSRC ClinVar
CLNACC RCV000038158.2,