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rs397517481

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517481(A;A)
Make rs397517481(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position178734327
GeneTTN
is asnp
is mentioned by
dbSNPrs397517481
ebirs397517481
HLIrs397517481
Exacrs397517481
Varsomers397517481
Maprs397517481
PheGenIrs397517481
hapmaprs397517481
1000 genomesrs397517481
hgdprs397517481
ensemblrs397517481
gopubmedrs397517481
geneviewrs397517481
scholarrs397517481
googlers397517481
pharmgkbrs397517481
gwascentralrs397517481
openSNPrs397517481
23andMers397517481
23andMe allrs397517481
SNP Nexus

SNPshotrs397517481
SNPdbers397517481
MSV3drs397517481
GWAS Ctlgrs397517481
Max Magnitude0
ClinVar
Risk rs397517481(A;A)
Alt rs397517481(A;A)
Reference rs397517481(G;G)
Significance Probable-Pathogenic
Disease Autosomal recessive centronuclear myopathy
Variation info
Gene TTN
CLNDBN Autosomal recessive centronuclear myopathy
Reversed 1
HGVS NC_000002.11:g.179599054C>T
CLNSRC ClinVar
CLNACC RCV000039871.2,