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rs794727468

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(ATGGCGG;ATGGCGG) 0 common in clinvar
Make rs794727468(-;-)
Make rs794727468(-;ATGGCGG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178554126
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs794727468
dbSNP (old)rs794727468
ClinGenrs794727468
ebirs794727468
HLIrs794727468
Exacrs794727468
Gnomadrs794727468
Varsomers794727468
Maprs794727468
PheGenIrs794727468
Biobankrs794727468
1000 genomesrs794727468
hgdprs794727468
ensemblrs794727468
gopubmedrs794727468
geneviewrs794727468
scholarrs794727468
googlers794727468
pharmgkbrs794727468
gwascentralrs794727468
openSNPrs794727468
23andMers794727468
23andMe allrs794727468
SNP Nexus

SNPshotrs794727468
SNPdbers794727468
MSV3drs794727468
GWAS Ctlgrs794727468
Max Magnitude0
ClinVar
Risk rs794727468(-;-)
Alt rs794727468(-;-)
Reference Rs794727468(ATGGCGG;ATGGCGG)
Significance Probable-Pathogenic
Disease Dilated cardiomyopathy 1G Myopathy Limb-girdle muscular dystrophy Hereditary myopathy with early respiratory failure Familial hypertrophic cardiomyopathy 9 Distal myopathy Markesbery-Griggs type
Variation info
Gene TTN TTN-AS1
CLNDBN Dilated cardiomyopathy 1G Myopathy, early-onset, with fatal cardiomyopathy Limb-girdle muscular dystrophy, type 2J Hereditary myopathy with early respiratory failure Familial hypertrophic cardiomyopathy 9 Distal myopathy Markesbery-Griggs type
Reversed 1
HGVS NC_000002.11:g.179418853_179418859delCCGCCAT
CLNSRC
CLNACC RCV000176901.1, RCV000279379.1, RCV000285107.1, RCV000323860.1, RCV000336797.1, RCV000371508.1,