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rs878854369

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878854369(C;C)
Make rs878854369(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178634722
GeneTTN
is asnp
is mentioned by
dbSNPrs878854369
ebirs878854369
HLIrs878854369
Exacrs878854369
Varsomers878854369
Maprs878854369
PheGenIrs878854369
hapmaprs878854369
1000 genomesrs878854369
hgdprs878854369
ensemblrs878854369
gopubmedrs878854369
geneviewrs878854369
scholarrs878854369
googlers878854369
pharmgkbrs878854369
gwascentralrs878854369
openSNPrs878854369
23andMers878854369
23andMe allrs878854369
SNP Nexus

SNPshotrs878854369
SNPdbers878854369
MSV3drs878854369
GWAS Ctlgrs878854369
Max Magnitude0
ClinVar
Risk rs878854369(C;C)
Alt rs878854369(C;C)
Reference rs878854369(G;G)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene TTN
CLNDBN Congenital muscular dystrophy
Reversed 1
HGVS NC_000002.11:g.179499449C>G
CLNSRC
CLNACC RCV000226930.1,