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rs17355446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs17355446(A;A)
Make rs17355446(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position178724514
GeneTTN
is asnp
is mentioned by
dbSNPrs17355446
dbSNP (classic)rs17355446
ClinGenrs17355446
ebirs17355446
HLIrs17355446
Exacrs17355446
Gnomadrs17355446
Varsomers17355446
LitVarrs17355446
Maprs17355446
PheGenIrs17355446
Biobankrs17355446
1000 genomesrs17355446
hgdprs17355446
ensemblrs17355446
geneviewrs17355446
scholarrs17355446
googlers17355446
pharmgkbrs17355446
gwascentralrs17355446
openSNPrs17355446
23andMers17355446
SNPshotrs17355446
SNPdbers17355446
MSV3drs17355446
GWAS Ctlgrs17355446
GMAF0.02847
Max Magnitude0
? (A;A) (A;G) (G;G) 28




ClinVar
Risk rs17355446(A;A)
Alt rs17355446(A;A)
Reference Rs17355446(G;G)
Significance Other
Disease not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure Myopathy Dilated Cardiomyopathy Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy
Variation info
Gene TTN
CLNDBN not specified Cardiovascular phenotype Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive
Reversed 0
HGVS NC_000002.11:g.179589241G>A
CLNSRC ClinVar GeneDx University of Chicago
CLNACC RCV000039947.8, RCV000253741.1, RCV000291382.1, RCV000313861.1, RCV000348985.1, RCV000370842.1, RCV000398755.1, RCV000400666.1,