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rs139517732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139517732(C;T)
Make rs139517732(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178802273
GeneTTN
is asnp
is mentioned by
dbSNPrs139517732
ebirs139517732
HLIrs139517732
Exacrs139517732
Varsomers139517732
Maprs139517732
PheGenIrs139517732
hapmaprs139517732
1000 genomesrs139517732
hgdprs139517732
ensemblrs139517732
gopubmedrs139517732
geneviewrs139517732
scholarrs139517732
googlers139517732
pharmgkbrs139517732
gwascentralrs139517732
openSNPrs139517732
23andMers139517732
23andMe allrs139517732
SNP Nexus

SNPshotrs139517732
SNPdbers139517732
MSV3drs139517732
GWAS Ctlgrs139517732
GMAF0.001837
Max Magnitude0
ClinVar
Risk rs139517732(T;T)
Alt rs139517732(T;T)
Reference rs139517732(C;C)
Significance Pathogenic
Disease Dilated cardiomyopathy 1G
Variation info
Gene TTN
CLNDBN Dilated cardiomyopathy 1G
Reversed 0
HGVS NC_000002.11:g.179667000C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013492.17,