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rs869320744

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869320744(A;A)
Make rs869320744(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178545864
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs869320744
ebirs869320744
HLIrs869320744
Exacrs869320744
Varsomers869320744
Maprs869320744
PheGenIrs869320744
hapmaprs869320744
1000 genomesrs869320744
hgdprs869320744
ensemblrs869320744
gopubmedrs869320744
geneviewrs869320744
scholarrs869320744
googlers869320744
pharmgkbrs869320744
gwascentralrs869320744
openSNPrs869320744
23andMers869320744
23andMe allrs869320744
SNP Nexus

SNPshotrs869320744
SNPdbers869320744
MSV3drs869320744
GWAS Ctlgrs869320744
Max Magnitude0
ClinVar
Risk rs869320744(A;A)
Alt rs869320744(A;A)
Reference rs869320744(G;G)
Significance Pathogenic
Disease Hereditary myopathy with early respiratory failure
Variation info
Gene TTN TTN-AS1
CLNDBN Hereditary myopathy with early respiratory failure
Reversed 1
HGVS NC_000002.11:g.179410591C>T
CLNSRC
CLNACC RCV000119027.2,