Have questions? Visit https://www.reddit.com/r/SNPedia

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
ebirs17028450
HLIrs17028450
Exacrs17028450
Varsomers17028450
Maprs17028450
PheGenIrs17028450
hapmaprs17028450
1000 genomesrs17028450
hgdprs17028450
ensemblrs17028450
gopubmedrs17028450
geneviewrs17028450
scholarrs17028450
googlers17028450
pharmgkbrs17028450
gwascentralrs17028450
openSNPrs17028450
23andMers17028450
23andMe allrs17028450
SNP Nexus

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 Pathogenic
Disease Dilated cardiomyopathy 1T not specified Dilated cardiomyopathy Loeys-Dietz syndrome 2
Variation info
Gene TMPO
CLNDBN Dilated cardiomyopathy 1T not specified Dilated cardiomyopathy Loeys-Dietz syndrome 2
Reversed 0
HGVS NC_000012.11:g.98928103C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013544.24, RCV000037751.3, RCV000172599.1, RCV000231421.1,



GET Evidence
TMPO-R690C
aa_change Arg690Cys
aa_change_short R690C
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00102326
summary