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rs1060500513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1060500513(-;-)
Make rs1060500513(-;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position178612450
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs1060500513
dbSNP (classic)rs1060500513
ClinGenrs1060500513
ebirs1060500513
HLIrs1060500513
Exacrs1060500513
Gnomadrs1060500513
Varsomers1060500513
LitVarrs1060500513
Maprs1060500513
PheGenIrs1060500513
Biobankrs1060500513
1000 genomesrs1060500513
hgdprs1060500513
ensemblrs1060500513
geneviewrs1060500513
scholarrs1060500513
googlers1060500513
pharmgkbrs1060500513
gwascentralrs1060500513
openSNPrs1060500513
23andMers1060500513
SNPshotrs1060500513
SNPdbers1060500513
MSV3drs1060500513
GWAS Ctlgrs1060500513
Max Magnitude0
ClinVar
Risk rs1060500513(-;-)
Alt rs1060500513(-;-)
Reference Rs1060500513(GA;GA)
Significance Probable-Pathogenic
Disease Dilated cardiomyopathy 1G
Variation info
Gene TTN TTN-AS1
CLNDBN Dilated cardiomyopathy 1G
Reversed 1
HGVS NC_000002.11:g.179477177_179477178delTC
CLNSRC
CLNACC RCV000457549.1,