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rs368219776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 2.7 Possible (silent?) cardiac issue
Make rs368219776(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position178642236
GeneTTN
is asnp
is mentioned by
dbSNPrs368219776
dbSNP (classic)rs368219776
ClinGenrs368219776
ebirs368219776
HLIrs368219776
Exacrs368219776
Gnomadrs368219776
Varsomers368219776
LitVarrs368219776
Maprs368219776
PheGenIrs368219776
Biobankrs368219776
1000 genomesrs368219776
hgdprs368219776
ensemblrs368219776
geneviewrs368219776
scholarrs368219776
googlers368219776
pharmgkbrs368219776
gwascentralrs368219776
openSNPrs368219776
23andMers368219776
SNPshotrs368219776
SNPdbers368219776
MSV3drs368219776
GWAS Ctlgrs368219776
Max Magnitude2.7

rs368219776, also known as c.40558+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 rs368219776(T;T)
Alt rs368219776(T;T)
Reference Rs368219776(C;C)
Significance Unknown
Disease Primary dilated cardiomyopathy not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Myopathy
Variation info
Gene TTN
CLNDBN Primary dilated cardiomyopathy not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy
Reversed 0
HGVS NC_000002.11:g.179506963C>T
CLNSRC
CLNACC RCV000209704.1, RCV000221188.2, RCV000456920.1, RCV000477783.1,