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rs869320742

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869320742(C;C)
Make rs869320742(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178546049
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs869320742
ebirs869320742
HLIrs869320742
Exacrs869320742
Varsomers869320742
Maprs869320742
PheGenIrs869320742
hapmaprs869320742
1000 genomesrs869320742
hgdprs869320742
ensemblrs869320742
gopubmedrs869320742
geneviewrs869320742
scholarrs869320742
googlers869320742
pharmgkbrs869320742
gwascentralrs869320742
openSNPrs869320742
23andMers869320742
23andMe allrs869320742
SNP Nexus

SNPshotrs869320742
SNPdbers869320742
MSV3drs869320742
GWAS Ctlgrs869320742
Max Magnitude0
ClinVar
Risk rs869320742(C;C)
Alt rs869320742(C;C)
Reference rs869320742(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.179410776C>G
CLNSRC
CLNACC RCV000119024.2,