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rs730880255

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880255(A;T)
Make rs730880255(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position17338626
GeneGTPBP3
is asnp
is mentioned by
dbSNPrs730880255
ebirs730880255
HLIrs730880255
Exacrs730880255
Varsomers730880255
Maprs730880255
PheGenIrs730880255
hapmaprs730880255
1000 genomesrs730880255
hgdprs730880255
ensemblrs730880255
gopubmedrs730880255
geneviewrs730880255
scholarrs730880255
googlers730880255
pharmgkbrs730880255
gwascentralrs730880255
openSNPrs730880255
23andMers730880255
23andMe allrs730880255
SNP Nexus

SNPshotrs730880255
SNPdbers730880255
MSV3drs730880255
GWAS Ctlgrs730880255
Max Magnitude0
ClinVar
Risk rs730880255(T;T)
Alt rs730880255(T;T)
Reference rs730880255(A;A)
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.17449435A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000157592.3,