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rs397517620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517620(G;G)
Make rs397517620(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178604051
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs397517620
dbSNP (classic)rs397517620
ClinGenrs397517620
ebirs397517620
HLIrs397517620
Exacrs397517620
Gnomadrs397517620
Varsomers397517620
LitVarrs397517620
Maprs397517620
PheGenIrs397517620
Biobankrs397517620
1000 genomesrs397517620
hgdprs397517620
ensemblrs397517620
geneviewrs397517620
scholarrs397517620
googlers397517620
pharmgkbrs397517620
gwascentralrs397517620
openSNPrs397517620
23andMers397517620
SNPshotrs397517620
SNPdbers397517620
MSV3drs397517620
GWAS Ctlgrs397517620
Max Magnitude0
ClinVar
Risk rs397517620(C;C) rs397517620(G;G)
Alt rs397517620(C;C) rs397517620(G;G)
Reference Rs397517620(T;T)
Significance Probable-Pathogenic
Disease Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J
Reversed 1
HGVS NC_000002.11:g.179468778A>C; NC_000002.11:g.179468778A>G
CLNSRC ClinVar
CLNACC RCV000040362.3, RCV000464314.1,