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rs372174278

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs372174278(C;C)
Make rs372174278(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position17339589
GeneGTPBP3
is asnp
is mentioned by
dbSNPrs372174278
ebirs372174278
HLIrs372174278
Exacrs372174278
Varsomers372174278
Maprs372174278
PheGenIrs372174278
hapmaprs372174278
1000 genomesrs372174278
hgdprs372174278
ensemblrs372174278
gopubmedrs372174278
geneviewrs372174278
scholarrs372174278
googlers372174278
pharmgkbrs372174278
gwascentralrs372174278
openSNPrs372174278
23andMers372174278
23andMe allrs372174278
SNP Nexus

SNPshotrs372174278
SNPdbers372174278
MSV3drs372174278
GWAS Ctlgrs372174278
Max Magnitude0
ClinVar
Risk rs372174278(C,T;C,T)
Alt rs372174278(C,T;C,T)
Reference rs372174278(G;G)
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.17450398G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000157593.3,