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rs397516709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516709(C;C)
Make rs397516709(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position31521245
GeneDSG2
is asnp
is mentioned by
dbSNPrs397516709
dbSNP (classic)rs397516709
ClinGenrs397516709
ebirs397516709
HLIrs397516709
Exacrs397516709
Gnomadrs397516709
Varsomers397516709
LitVarrs397516709
Maprs397516709
PheGenIrs397516709
Biobankrs397516709
1000 genomesrs397516709
hgdprs397516709
ensemblrs397516709
geneviewrs397516709
scholarrs397516709
googlers397516709
pharmgkbrs397516709
gwascentralrs397516709
openSNPrs397516709
23andMers397516709
SNPshotrs397516709
SNPdbers397516709
MSV3drs397516709
GWAS Ctlgrs397516709
Max Magnitude0
ClinVar
Risk rs397516709(C;C)
Alt rs397516709(C;C)
Reference Rs397516709(T;T)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype
Variation info
Gene DSG2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy, type 10 Cardiovascular phenotype
Reversed 0
HGVS NC_000018.9:g.29101208T>C
CLNSRC ClinVar
CLNACC RCV000037309.3, RCV000181206.3, RCV000232524.1, RCV000241644.1,