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rs587776772

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776772(-;-)
Make rs587776772(-;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position178529083
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs587776772
dbSNP (classic)rs587776772
ClinGenrs587776772
ebirs587776772
HLIrs587776772
Exacrs587776772
Gnomadrs587776772
Varsomers587776772
LitVarrs587776772
Maprs587776772
PheGenIrs587776772
Biobankrs587776772
1000 genomesrs587776772
hgdprs587776772
ensemblrs587776772
geneviewrs587776772
scholarrs587776772
googlers587776772
pharmgkbrs587776772
gwascentralrs587776772
openSNPrs587776772
23andMers587776772
SNPshotrs587776772
SNPdbers587776772
MSV3drs587776772
GWAS Ctlgrs587776772
Max Magnitude0
ClinVar
Risk Rs587776772(T;T) rs587776772(-;-)
Alt Rs587776772(T;T) rs587776772(-;-)
Reference Rs587776772(A;A)
Significance Pathogenic
Disease Myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Myopathy, early-onset, with fatal cardiomyopathy
Reversed 1
HGVS NC_000002.11:g.179393810delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000013496.25,