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rs121918601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918601(A;T)
Make rs121918601(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position237640938
GeneRYR2
is asnp
is mentioned by
dbSNPrs121918601
ebirs121918601
HLIrs121918601
Exacrs121918601
Varsomers121918601
Maprs121918601
PheGenIrs121918601
hapmaprs121918601
1000 genomesrs121918601
hgdprs121918601
ensemblrs121918601
gopubmedrs121918601
geneviewrs121918601
scholarrs121918601
googlers121918601
pharmgkbrs121918601
gwascentralrs121918601
openSNPrs121918601
23andMers121918601
23andMe allrs121918601
SNP Nexus

SNPshotrs121918601
SNPdbers121918601
MSV3drs121918601
GWAS Ctlgrs121918601
Max Magnitude0
OMIM180902
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918601(T;T)
Alt rs121918601(T;T)
Reference rs121918601(A;A)
Significance Pathogenic
Disease Arrhythmogenic right ventricular dysplasia
Variation info
Gene RYR2
CLNDBN Arrhythmogenic right ventricular dysplasia, familial, 2
Reversed 0
HGVS NC_000001.10:g.237804238A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013824.23,