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rs797044692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044692(-;T)
Make rs797044692(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178591043
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs797044692
dbSNP (old)rs797044692
ClinGenrs797044692
ebirs797044692
HLIrs797044692
Exacrs797044692
Gnomadrs797044692
Varsomers797044692
Maprs797044692
PheGenIrs797044692
Biobankrs797044692
1000 genomesrs797044692
hgdprs797044692
ensemblrs797044692
gopubmedrs797044692
geneviewrs797044692
scholarrs797044692
googlers797044692
pharmgkbrs797044692
gwascentralrs797044692
openSNPrs797044692
23andMers797044692
23andMe allrs797044692
SNP Nexus

SNPshotrs797044692
SNPdbers797044692
MSV3drs797044692
GWAS Ctlgrs797044692
Max Magnitude0
ClinVar
Risk rs797044692(T;T)
Alt rs797044692(T;T)
Reference Rs797044692(-;-)
Significance Probable-Pathogenic
Disease Dilated cardiomyopathy 1G Myopathy Limb-girdle muscular dystrophy Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure 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 Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Distal myopathy Markesbery-Griggs type
Reversed 1
HGVS NC_000002.11:g.179455771dupA
CLNSRC
CLNACC RCV000176604.1, RCV000288731.1, RCV000294518.1, RCV000346038.1, RCV000351739.1, RCV000398372.1,