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rs375679311

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs375679311(A;G)
Make rs375679311(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position31536256
GeneDSG2
is asnp
is mentioned by
dbSNPrs375679311
dbSNP (classic)rs375679311
ClinGenrs375679311
ebirs375679311
HLIrs375679311
Exacrs375679311
Gnomadrs375679311
Varsomers375679311
LitVarrs375679311
Maprs375679311
PheGenIrs375679311
Biobankrs375679311
1000 genomesrs375679311
hgdprs375679311
ensemblrs375679311
geneviewrs375679311
scholarrs375679311
googlers375679311
pharmgkbrs375679311
gwascentralrs375679311
openSNPrs375679311
23andMers375679311
SNPshotrs375679311
SNPdbers375679311
MSV3drs375679311
GWAS Ctlgrs375679311
Max Magnitude0
ClinVar
Risk rs375679311(G;G)
Alt rs375679311(G;G)
Reference Rs375679311(A;A)
Significance Probable-Pathogenic
Disease not specified Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSG2
CLNDBN not specified Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy, type 10
Reversed 0
HGVS NC_000018.9:g.29116219A>G
CLNSRC
CLNACC RCV000150540.2, RCV000171832.2, RCV000246903.1, RCV000458560.1,