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

rs202234172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 2.7 Possible (silent?) cardiac issue
Make rs202234172(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position178689897
GeneTTN
is asnp
is mentioned by
dbSNPrs202234172
dbSNP (classic)rs202234172
ClinGenrs202234172
ebirs202234172
HLIrs202234172
Exacrs202234172
Gnomadrs202234172
Varsomers202234172
LitVarrs202234172
Maprs202234172
PheGenIrs202234172
Biobankrs202234172
1000 genomesrs202234172
hgdprs202234172
ensemblrs202234172
geneviewrs202234172
scholarrs202234172
googlers202234172
pharmgkbrs202234172
gwascentralrs202234172
openSNPrs202234172
23andMers202234172
23andMe allrs202234172
SNPshotrs202234172
SNPdbers202234172
MSV3drs202234172
GWAS Ctlgrs202234172
Max Magnitude2.7

rs202234172, also known as c.31763-1G>A, is a rare mutation in the TTN gene.

10.1038/ng.3719 Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM), yet may be silently present in ~1% of the general population. This variant was observed in healthy humans, where machine-learning-based analysis of high-resolution cardiac imaging showed it to be associated with eccentric cardiac remodeling.

ClinVar
Risk rs202234172(T;T)
Alt rs202234172(T;T)
Reference Rs202234172(C;C)
Significance Other
Disease not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy
Variation info
Gene TTN
CLNDBN not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J
Reversed 0
HGVS NC_000002.11:g.179554624C>T
CLNSRC
CLNACC RCV000040125.3, RCV000209343.2, RCV000467245.1,