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rs794726692

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794726692(C;T)
Make rs794726692(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position16025169
GeneTTC19
is asnp
is mentioned by
dbSNPrs794726692
ebirs794726692
HLIrs794726692
Exacrs794726692
Varsomers794726692
Maprs794726692
PheGenIrs794726692
hapmaprs794726692
1000 genomesrs794726692
hgdprs794726692
ensemblrs794726692
gopubmedrs794726692
geneviewrs794726692
scholarrs794726692
googlers794726692
pharmgkbrs794726692
gwascentralrs794726692
openSNPrs794726692
23andMers794726692
23andMe allrs794726692
SNP Nexus

SNPshotrs794726692
SNPdbers794726692
MSV3drs794726692
GWAS Ctlgrs794726692
Max Magnitude0
ClinVar
Risk rs794726692(T;T)
Alt rs794726692(T;T)
Reference rs794726692(C;C)
Significance Pathogenic
Disease Mitochondrial complex III deficiency
Variation info
Gene TTC19
CLNDBN Mitochondrial complex III deficiency, nuclear type 2
Reversed 0
HGVS NC_000017.10:g.15928483C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000088678.3,