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rs387906514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906514(C;T)
Make rs387906514(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position75958692
GeneTGFB3
is asnp
is mentioned by
dbSNPrs387906514
ebirs387906514
HLIrs387906514
Exacrs387906514
Varsomers387906514
Maprs387906514
PheGenIrs387906514
hapmaprs387906514
1000 genomesrs387906514
hgdprs387906514
ensemblrs387906514
gopubmedrs387906514
geneviewrs387906514
scholarrs387906514
googlers387906514
pharmgkbrs387906514
gwascentralrs387906514
openSNPrs387906514
23andMers387906514
23andMe allrs387906514
SNP Nexus

SNPshotrs387906514
SNPdbers387906514
MSV3drs387906514
GWAS Ctlgrs387906514
Max Magnitude0
ClinVar
Risk rs387906514(T;T)
Alt rs387906514(T;T)
Reference rs387906514(C;C)
Significance Pathogenic
Disease Arrhythmogenic right ventricular dysplasia
Variation info
Gene TGFB3
CLNDBN Arrhythmogenic right ventricular dysplasia, familial 1
Reversed 1
HGVS NC_000014.8:g.76425035G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013293.24,