SNP Detail For rs294039
1.Mapping Information
Human SNP ID rs294039
Human chromosome chr5
Human SNP position 103585465
Pig chromosome chr2
Pig SNP position 113234826
2.Annotation Information
PubMed ID25240745
JournalMitochondrion
Linkwww.ncbi.nlm.nih.gov/pubmed/25240745
StudyA genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
Disease/TraitMitochondrial DNA levels
Initial sample173 European ancestry males and 213 European ancestry females from 21 families
Replication sampleNA
Region5q21.2
Chromosome idchr5
Chromosome position103585465
Reported geneNUDT12
Mapped geneNUDT12 - LOC105379107
Upstream gene id83594
Downstream gene id105379107
SNP gene ids
Upstream gene distance22661
Downstream gene distance85324
SNP risk allelers294039-?
SNPsrs294039
Merged0
SNP id current294039
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000005
Pvalue mlog5.30102999566398
P value text
Or beta
%95 Ci[NR]
PlatformIllumina [283437]
CNVN
Mapped traitmitochondrial DNA measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006312
Study accessionGCST002616