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rs869320740

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869320740(C;C)
Make rs869320740(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178546102
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs869320740
ebirs869320740
HLIrs869320740
Exacrs869320740
Varsomers869320740
Maprs869320740
PheGenIrs869320740
hapmaprs869320740
1000 genomesrs869320740
hgdprs869320740
ensemblrs869320740
gopubmedrs869320740
geneviewrs869320740
scholarrs869320740
googlers869320740
pharmgkbrs869320740
gwascentralrs869320740
openSNPrs869320740
23andMers869320740
23andMe allrs869320740
SNP Nexus

SNPshotrs869320740
SNPdbers869320740
MSV3drs869320740
GWAS Ctlgrs869320740
Max Magnitude0
ClinVar
Risk rs869320740(C;C)
Alt rs869320740(C;C)
Reference rs869320740(T;T)
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.179410829A>G
CLNSRC
CLNACC RCV000119021.2,