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rs121912999

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.7 Arrhythmogenic right ventricular dysplasia
(G;G) 0 common in clinvar


Make rs121912999(A;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position7585763
GeneDSP
is asnp
is mentioned by
dbSNPrs121912999
dbSNP (classic)rs121912999
ClinGenrs121912999
ebirs121912999
HLIrs121912999
Exacrs121912999
Gnomadrs121912999
Varsomers121912999
LitVarrs121912999
Maprs121912999
PheGenIrs121912999
Biobankrs121912999
1000 genomesrs121912999
hgdprs121912999
ensemblrs121912999
geneviewrs121912999
scholarrs121912999
googlers121912999
pharmgkbrs121912999
gwascentralrs121912999
openSNPrs121912999
23andMers121912999
SNPshotrs121912999
SNPdbers121912999
MSV3drs121912999
GWAS Ctlgrs121912999
Max Magnitude6.7
OMIM125647
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912999(A;A)
Alt rs121912999(A;A)
Reference Rs121912999(G;G)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSP
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 8
Reversed 0
HGVS NC_000006.11:g.7585996G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018341.28,