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rs794727544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TACTT;TACTT) 0 common in clinvar
Make rs794727544(-;-)
Make rs794727544(-;TACTT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178528584
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs794727544
dbSNP (old)rs794727544
ClinGenrs794727544
ebirs794727544
HLIrs794727544
Exacrs794727544
Gnomadrs794727544
Varsomers794727544
Maprs794727544
PheGenIrs794727544
Biobankrs794727544
1000 genomesrs794727544
hgdprs794727544
ensemblrs794727544
gopubmedrs794727544
geneviewrs794727544
scholarrs794727544
googlers794727544
pharmgkbrs794727544
gwascentralrs794727544
openSNPrs794727544
23andMers794727544
23andMe allrs794727544
SNP Nexus

SNPshotrs794727544
SNPdbers794727544
MSV3drs794727544
GWAS Ctlgrs794727544
Max Magnitude0
ClinVar
Risk rs794727544(-;-)
Alt rs794727544(-;-)
Reference Rs794727544(TACTT;TACTT)
Significance Probable-Pathogenic
Disease Myopathy Limb-girdle muscular dystrophy Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type
Variation info
Gene TTN TTN-AS1
CLNDBN Myopathy, early-onset, with fatal cardiomyopathy Limb-girdle muscular dystrophy, type 2J Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type
Reversed 1
HGVS NC_000002.11:g.179393311_179393315delAAGTA
CLNSRC
CLNACC RCV000177506.1, RCV000287448.1, RCV000293769.1, RCV000328515.1, RCV000381941.1, RCV000383085.1,