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rs886043718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TACA;TACA) 0 common in clinvar
Chromosome2
Position178609961
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs886043718
dbSNP (classic)rs886043718
ClinGenrs886043718
ebirs886043718
HLIrs886043718
Exacrs886043718
Gnomadrs886043718
Varsomers886043718
LitVarrs886043718
Maprs886043718
PheGenIrs886043718
Biobankrs886043718
1000 genomesrs886043718
hgdprs886043718
ensemblrs886043718
geneviewrs886043718
scholarrs886043718
googlers886043718
pharmgkbrs886043718
gwascentralrs886043718
openSNPrs886043718
23andMers886043718
SNPshotrs886043718
SNPdbers886043718
MSV3drs886043718
GWAS Ctlgrs886043718
Max Magnitude0
ClinVar
Risk rs886043718(-;-)
Alt rs886043718(-;-)
Reference Rs886043718(TACA;TACA)
Significance Probable-Pathogenic
Disease Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy Familial hypertrophic cardiomyopathy 9 Distal myopathy Markesbery-Griggs type Dilated cardiomyopathy 1G Myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy, type 2J Familial hypertrophic cardiomyopathy 9 Distal myopathy Markesbery-Griggs type Dilated cardiomyopathy 1G Myopathy, early-onset, with fatal cardiomyopathy
Reversed 0
HGVS NC_000002.11:g.179474688_179474691delTACA
CLNSRC
CLNACC RCV000259741.1, RCV000293832.1, RCV000329628.1, RCV000333676.1, RCV000354357.1, RCV000388060.1,