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rs778127887

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.7 Arrhythmogenic right ventricular dysplasia
Make rs778127887(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position14141613
GeneTMEM43
is asnp
is mentioned by
dbSNPrs778127887
dbSNP (classic)rs778127887
ClinGenrs778127887
ebirs778127887
HLIrs778127887
Exacrs778127887
Gnomadrs778127887
Varsomers778127887
LitVarrs778127887
Maprs778127887
PheGenIrs778127887
Biobankrs778127887
1000 genomesrs778127887
hgdprs778127887
ensemblrs778127887
geneviewrs778127887
scholarrs778127887
googlers778127887
pharmgkbrs778127887
gwascentralrs778127887
openSNPrs778127887
23andMers778127887
SNPshotrs778127887
SNPdbers778127887
MSV3drs778127887
GWAS Ctlgrs778127887
Max Magnitude6.7
ClinVar
Risk rs778127887(T;T)
Alt rs778127887(T;T)
Reference Rs778127887(C;C)
Significance Probable-Pathogenic
Disease Cardiomyopathy
Variation info
Gene TMEM43
CLNDBN Cardiomyopathy
Reversed 0
HGVS NC_000003.11:g.14183113C>T
CLNSRC
CLNACC RCV000201506.1,