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rs397517750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397517750(-;T)
Make rs397517750(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position178552121
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs397517750
dbSNP (classic)rs397517750
ClinGenrs397517750
ebirs397517750
HLIrs397517750
Exacrs397517750
Gnomadrs397517750
Varsomers397517750
LitVarrs397517750
Maprs397517750
PheGenIrs397517750
Biobankrs397517750
1000 genomesrs397517750
hgdprs397517750
ensemblrs397517750
geneviewrs397517750
scholarrs397517750
googlers397517750
pharmgkbrs397517750
gwascentralrs397517750
openSNPrs397517750
23andMers397517750
SNPshotrs397517750
SNPdbers397517750
MSV3drs397517750
GWAS Ctlgrs397517750
Max Magnitude0
ClinVar
Risk rs397517750(T;T)
Alt rs397517750(T;T)
Reference Rs397517750(-;-)
Significance Probable-Pathogenic
Disease Primary dilated cardiomyopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Primary dilated cardiomyopathy
Reversed 1
HGVS NC_000002.11:g.179416849dupA
CLNSRC ClinVar
CLNACC RCV000040769.3,