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rs869320743

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869320743(C;G)
Make rs869320743(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178545878
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs869320743
ebirs869320743
HLIrs869320743
Exacrs869320743
Varsomers869320743
Maprs869320743
PheGenIrs869320743
hapmaprs869320743
1000 genomesrs869320743
hgdprs869320743
ensemblrs869320743
gopubmedrs869320743
geneviewrs869320743
scholarrs869320743
googlers869320743
pharmgkbrs869320743
gwascentralrs869320743
openSNPrs869320743
23andMers869320743
23andMe allrs869320743
SNP Nexus

SNPshotrs869320743
SNPdbers869320743
MSV3drs869320743
GWAS Ctlgrs869320743
Max Magnitude0
ClinVar
Risk rs869320743(G;G)
Alt rs869320743(G;G)
Reference rs869320743(C;C)
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.179410605G>C
CLNSRC
CLNACC RCV000119026.2,