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rs794727467

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727467(G;T)
Make rs794727467(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178554864
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs794727467
dbSNP (old)rs794727467
ClinGenrs794727467
ebirs794727467
HLIrs794727467
Exacrs794727467
Varsomers794727467
Maprs794727467
PheGenIrs794727467
Biobankrs794727467
1000 genomesrs794727467
hgdprs794727467
ensemblrs794727467
gopubmedrs794727467
geneviewrs794727467
scholarrs794727467
googlers794727467
pharmgkbrs794727467
gwascentralrs794727467
openSNPrs794727467
23andMers794727467
23andMe allrs794727467
SNP Nexus

SNPshotrs794727467
SNPdbers794727467
MSV3drs794727467
GWAS Ctlgrs794727467
Max Magnitude0
ClinVar
Risk rs794727467(T;T)
Alt rs794727467(T;T)
Reference Rs794727467(G;G)
Significance Probable-Pathogenic
Disease Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy Myopathy Hereditary myopathy with early respiratory failure Familial hypertrophic cardiomyopathy 9
Variation info
Gene TTN TTN-AS1
CLNDBN Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure Familial hypertrophic cardiomyopathy 9
Reversed 1
HGVS NC_000002.11:g.179419591C>A
CLNSRC
CLNACC RCV000176899.1, RCV000299640.1, RCV000348579.1, RCV000354607.1, RCV000408047.1, RCV000408057.1,