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rs797044697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044697(-;TTAG)
Make rs797044697(TTAG;TTAG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178563587
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs797044697
dbSNP (old)rs797044697
ClinGenrs797044697
ebirs797044697
HLIrs797044697
Exacrs797044697
Gnomadrs797044697
Varsomers797044697
Maprs797044697
PheGenIrs797044697
Biobankrs797044697
1000 genomesrs797044697
hgdprs797044697
ensemblrs797044697
gopubmedrs797044697
geneviewrs797044697
scholarrs797044697
googlers797044697
pharmgkbrs797044697
gwascentralrs797044697
openSNPrs797044697
23andMers797044697
23andMe allrs797044697
SNP Nexus

SNPshotrs797044697
SNPdbers797044697
MSV3drs797044697
GWAS Ctlgrs797044697
Max Magnitude0
ClinVar
Risk rs797044697(TTAG;TTAG)
Alt rs797044697(TTAG;TTAG)
Reference Rs797044697(-;-)
Significance Probable-Pathogenic
Disease Hereditary myopathy with early respiratory failure Familial hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy Myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Hereditary myopathy with early respiratory failure Familial hypertrophic cardiomyopathy 9 Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy
Reversed 1
HGVS NC_000002.11:g.179428314_179428315insCTAA
CLNSRC
CLNACC RCV000176832.1, RCV000308220.1, RCV000344351.1, RCV000347932.1, RCV000392748.1, RCV000400684.1,