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rs387907094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907094(C;T)
Make rs387907094(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position16003885
GeneTTC19
is asnp
is mentioned by
dbSNPrs387907094
ebirs387907094
HLIrs387907094
Exacrs387907094
Varsomers387907094
Maprs387907094
PheGenIrs387907094
hapmaprs387907094
1000 genomesrs387907094
hgdprs387907094
ensemblrs387907094
gopubmedrs387907094
geneviewrs387907094
scholarrs387907094
googlers387907094
pharmgkbrs387907094
gwascentralrs387907094
openSNPrs387907094
23andMers387907094
23andMe allrs387907094
SNP Nexus

SNPshotrs387907094
SNPdbers387907094
MSV3drs387907094
GWAS Ctlgrs387907094
Max Magnitude0
ClinVar
Risk rs387907094(T;T)
Alt rs387907094(T;T)
Reference rs387907094(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.15907199C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024068.5,