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rs878854378

From SNPedia

Orientationminus
Geno Mag Summary
(CAA;CAA) 0 common in clinvar
Make rs878854378(-;-)
Make rs878854378(-;CAA)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178533657
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs878854378
ebirs878854378
HLIrs878854378
Exacrs878854378
Varsomers878854378
Maprs878854378
PheGenIrs878854378
hapmaprs878854378
1000 genomesrs878854378
hgdprs878854378
ensemblrs878854378
gopubmedrs878854378
geneviewrs878854378
scholarrs878854378
googlers878854378
pharmgkbrs878854378
gwascentralrs878854378
openSNPrs878854378
23andMers878854378
23andMe allrs878854378
SNP Nexus

SNPshotrs878854378
SNPdbers878854378
MSV3drs878854378
GWAS Ctlgrs878854378
Max Magnitude0
ClinVar
Risk rs878854378(;)
Alt rs878854378(;)
Reference rs878854378(CAA;CAA)
Significance Probable-Pathogenic
Disease Congenital myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Congenital myopathy
Reversed 1
HGVS NC_000002.11:g.179398384_179398386delTTG
CLNSRC
CLNACC RCV000230182.1,