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rs200830807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200830807(A;A)
Make rs200830807(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position31546426
GeneDSG2, DSG2-AS1
is asnp
is mentioned by
dbSNPrs200830807
dbSNP (classic)rs200830807
ClinGenrs200830807
ebirs200830807
HLIrs200830807
Exacrs200830807
Gnomadrs200830807
Varsomers200830807
LitVarrs200830807
Maprs200830807
PheGenIrs200830807
Biobankrs200830807
1000 genomesrs200830807
hgdprs200830807
ensemblrs200830807
geneviewrs200830807
scholarrs200830807
googlers200830807
pharmgkbrs200830807
gwascentralrs200830807
openSNPrs200830807
23andMers200830807
SNPshotrs200830807
SNPdbers200830807
MSV3drs200830807
GWAS Ctlgrs200830807
Max Magnitude0
ClinVar
Risk rs200830807(A;A)
Alt rs200830807(A;A)
Reference Rs200830807(G;G)
Significance Probable-Pathogenic
Disease not specified Dilated cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSG2-AS1 DSG2
CLNDBN not specified Dilated cardiomyopathy Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy, type 10
Reversed 0
HGVS NC_000018.9:g.29126389G>A
CLNSRC
CLNACC RCV000037296.3, RCV000171834.1, RCV000242473.1, RCV000473314.1,