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rs17028450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs17028450(C;T)
Make rs17028450(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position98534325
GeneTMPO
is asnp
is mentioned by
dbSNPrs17028450
dbSNP (classic)rs17028450
ClinGenrs17028450
ebirs17028450
HLIrs17028450
Exacrs17028450
Gnomadrs17028450
Varsomers17028450
LitVarrs17028450
Maprs17028450
PheGenIrs17028450
Biobankrs17028450
1000 genomesrs17028450
hgdprs17028450
ensemblrs17028450
geneviewrs17028450
scholarrs17028450
googlers17028450
pharmgkbrs17028450
gwascentralrs17028450
openSNPrs17028450
23andMers17028450
23andMe allrs17028450
SNPshotrs17028450
SNPdbers17028450
MSV3drs17028450
GWAS Ctlgrs17028450
GMAF0.01331
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM188380
Desc
Variant0001
Relatedalso


ClinVar
Risk rs17028450(T;T)
Alt rs17028450(T;T)
Reference Rs17028450(C;C)
Significance Probable-non-pathogenic
Disease Dilated cardiomyopathy 1T not specified Dilated cardiomyopathy Loeys-Dietz syndrome 2 Cardiovascular phenotype Dilated Cardiomyopathy
Variation info
Gene TMPO
CLNDBN Dilated cardiomyopathy 1T not specified Dilated cardiomyopathy Loeys-Dietz syndrome 2 Cardiovascular phenotype Dilated Cardiomyopathy, Dominant
Reversed 0
HGVS NC_000012.11:g.98928103C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013544.25, RCV000037751.4, RCV000172599.1, RCV000231421.2, RCV000254155.1, RCV000403830.1,