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rs869320739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869320739(C;G)
Make rs869320739(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178546110
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs869320739
dbSNP (classic)rs869320739
ClinGenrs869320739
ebirs869320739
HLIrs869320739
Exacrs869320739
Gnomadrs869320739
Varsomers869320739
LitVarrs869320739
Maprs869320739
PheGenIrs869320739
Biobankrs869320739
1000 genomesrs869320739
hgdprs869320739
ensemblrs869320739
geneviewrs869320739
scholarrs869320739
googlers869320739
pharmgkbrs869320739
gwascentralrs869320739
openSNPrs869320739
23andMers869320739
SNPshotrs869320739
SNPdbers869320739
MSV3drs869320739
GWAS Ctlgrs869320739
Max Magnitude0
ClinVar
Risk rs869320739(A;A) rs869320739(G;G)
Alt rs869320739(A;A) rs869320739(G;G)
Reference Rs869320739(C;C)
Significance Pathogenic
Disease Hereditary myopathy with early respiratory failure not provided not specified
Variation info
Gene TTN TTN-AS1
CLNDBN Hereditary myopathy with early respiratory failure not provided not specified
Reversed 1
HGVS NC_000002.11:g.179410837G>C; NC_000002.11:g.179410837G>T
CLNSRC
CLNACC RCV000119020.2, RCV000255564.1, RCV000301398.2, RCV000403585.1,