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rs199526104

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199526104(C;C)
Make rs199526104(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position14139244
GeneTMEM43
is asnp
is mentioned by
dbSNPrs199526104
dbSNP (classic)rs199526104
ClinGenrs199526104
ebirs199526104
HLIrs199526104
Exacrs199526104
Gnomadrs199526104
Varsomers199526104
LitVarrs199526104
Maprs199526104
PheGenIrs199526104
Biobankrs199526104
1000 genomesrs199526104
hgdprs199526104
ensemblrs199526104
geneviewrs199526104
scholarrs199526104
googlers199526104
pharmgkbrs199526104
gwascentralrs199526104
openSNPrs199526104
23andMers199526104
SNPshotrs199526104
SNPdbers199526104
MSV3drs199526104
GWAS Ctlgrs199526104
Max Magnitude0
ClinVar
Risk rs199526104(C;C)
Alt rs199526104(C;C)
Reference Rs199526104(G;G)
Significance Probable-Pathogenic
Disease not specified Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene TMEM43
CLNDBN not specified Arrhythmogenic right ventricular cardiomyopathy, type 5
Reversed 0
HGVS NC_000003.11:g.14180744G>C
CLNSRC
CLNACC RCV000039395.3, RCV000457565.1,