Have questions? Visit https://www.reddit.com/r/SNPedia

rs864321713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAACACTG;AAAACACTG) 0 common in clinvar
Make rs864321713(-;-)
Make rs864321713(-;GAAAACACT)
Make rs864321713(GAAAACACT;GAAAACACT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position178653465
GeneTTN
is asnp
is mentioned by
dbSNPrs864321713
dbSNP (old)rs864321713
ClinGenrs864321713
ebirs864321713
HLIrs864321713
Exacrs864321713
Gnomadrs864321713
Varsomers864321713
Maprs864321713
PheGenIrs864321713
Biobankrs864321713
1000 genomesrs864321713
hgdprs864321713
ensemblrs864321713
gopubmedrs864321713
geneviewrs864321713
scholarrs864321713
googlers864321713
pharmgkbrs864321713
gwascentralrs864321713
openSNPrs864321713
23andMers864321713
23andMe allrs864321713
SNP Nexus

SNPshotrs864321713
SNPdbers864321713
MSV3drs864321713
GWAS Ctlgrs864321713
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs864321713(AAAACACTG;AAAACACTG)
Significance Probable-Pathogenic
Disease CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement
Variation info
Gene TTN
CLNDBN CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement
Reversed 1
HGVS NC_000002.11:g.179518192_179518200delAGTGTTTTC
CLNSRC
CLNACC RCV000203600.1,