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rs886042441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome2
Position178575378
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs886042441
dbSNP (classic)rs886042441
ClinGenrs886042441
ebirs886042441
HLIrs886042441
Exacrs886042441
Gnomadrs886042441
Varsomers886042441
LitVarrs886042441
Maprs886042441
PheGenIrs886042441
Biobankrs886042441
1000 genomesrs886042441
hgdprs886042441
ensemblrs886042441
geneviewrs886042441
scholarrs886042441
googlers886042441
pharmgkbrs886042441
gwascentralrs886042441
openSNPrs886042441
23andMers886042441
SNPshotrs886042441
SNPdbers886042441
MSV3drs886042441
GWAS Ctlgrs886042441
Max Magnitude0
ClinVar
Risk rs886042441(-;-)
Alt rs886042441(-;-)
Reference Rs886042441(A;A)
Significance Probable-Pathogenic
Disease Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Myopathy Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy, type 2J
Reversed 0
HGVS NC_000002.11:g.179440105delA
CLNSRC
CLNACC RCV000292168.1, RCV000295908.1, RCV000327340.1, RCV000349628.1, RCV000384174.1, RCV000405313.1,