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rs869320746

From SNPedia

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Geno Mag Summary
(;) 0 common in clinvar
Make rs869320746(-;-)
Make rs869320746(-;C)
Make rs869320746(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position17341515
GeneGTPBP3
is asnp
is mentioned by
dbSNPrs869320746
ebirs869320746
HLIrs869320746
Exacrs869320746
Varsomers869320746
Maprs869320746
PheGenIrs869320746
hapmaprs869320746
1000 genomesrs869320746
hgdprs869320746
ensemblrs869320746
gopubmedrs869320746
geneviewrs869320746
scholarrs869320746
googlers869320746
pharmgkbrs869320746
gwascentralrs869320746
openSNPrs869320746
23andMers869320746
23andMe allrs869320746
SNP Nexus

SNPshotrs869320746
SNPdbers869320746
MSV3drs869320746
GWAS Ctlgrs869320746
Max Magnitude0
ClinVar
Risk rs869320746(C;C)
Alt rs869320746(C;C)
Reference rs869320746(;)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 23
Variation info
Gene GTPBP3
CLNDBN Combined oxidative phosphorylation deficiency 23
Reversed 0
HGVS NC_000019.9:g.17452324dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000157590.3,