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rs794729330

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794729330(-;C)
Make rs794729330(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178584960
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs794729330
dbSNP (old)rs794729330
ClinGenrs794729330
ebirs794729330
HLIrs794729330
Exacrs794729330
Varsomers794729330
Maprs794729330
PheGenIrs794729330
Biobankrs794729330
1000 genomesrs794729330
hgdprs794729330
ensemblrs794729330
gopubmedrs794729330
geneviewrs794729330
scholarrs794729330
googlers794729330
pharmgkbrs794729330
gwascentralrs794729330
openSNPrs794729330
23andMers794729330
23andMe allrs794729330
SNP Nexus

SNPshotrs794729330
SNPdbers794729330
MSV3drs794729330
GWAS Ctlgrs794729330
Max Magnitude0
ClinVar
Risk rs794729330(C;C)
Alt rs794729330(C;C)
Reference Rs794729330(-;-)
Significance Pathogenic
Disease not provided Familial hypertrophic cardiomyopathy 9 Distal myopathy Markesbery-Griggs type Dilated cardiomyopathy 1G Myopathy Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN not provided Familial hypertrophic cardiomyopathy 9 Distal myopathy Markesbery-Griggs type Dilated cardiomyopathy 1G Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy, type 2J
Reversed 1
HGVS NC_000002.11:g.179449688dupG
CLNSRC
CLNACC RCV000184319.1, RCV000269745.1, RCV000274642.1, RCV000300436.1, RCV000313337.1, RCV000366886.1, RCV000371300.1,