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rs878854371

From SNPedia

Orientationminus
Geno Mag Summary
(GAAA;GAAA) 0 common in clinvar
Make rs878854371(-;-)
Make rs878854371(-;GAAA)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178634463
GeneTTN
is asnp
is mentioned by
dbSNPrs878854371
ebirs878854371
HLIrs878854371
Exacrs878854371
Varsomers878854371
Maprs878854371
PheGenIrs878854371
hapmaprs878854371
1000 genomesrs878854371
hgdprs878854371
ensemblrs878854371
gopubmedrs878854371
geneviewrs878854371
scholarrs878854371
googlers878854371
pharmgkbrs878854371
gwascentralrs878854371
openSNPrs878854371
23andMers878854371
23andMe allrs878854371
SNP Nexus

SNPshotrs878854371
SNPdbers878854371
MSV3drs878854371
GWAS Ctlgrs878854371
Max Magnitude0
ClinVar
Risk rs878854371(;)
Alt rs878854371(;)
Reference rs878854371(GAAA;GAAA)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene TTN
CLNDBN Congenital muscular dystrophy
Reversed 1
HGVS NC_000002.11:g.179499190_179499193delTTTC
CLNSRC
CLNACC RCV000231033.1,