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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:mitochondrial heteroplasmy measurement
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Accession:EFO:0600008 term browser browse the term
Definition:A quantification of the degree of mitochondrial heteroplasmy, i.e. the presence of different mitochondrial DNA variants in different mitochondria within the same individual organism or cell. Heteroplasmy can be inherited through the maternal germ line, or arise through somatic mitochondrial mutations within an individual.
Synonyms:xref: PMID:33731350
 external_ontology: is_about is_about EFO:0008480;   is_about EFO:GO:0005739


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mitochondrial heteroplasmy measurement term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
V CV984433 NM_000511.6(FUT2):c.249C>T (p.Tyr83=) IAGP GWAS_CATALOG PMID:33731350 NCBI chr19:48,703,205...48,703,205 JBrowse link
V rs10063311 IAGP GWAS_CATALOG PMID:33731350 NCBI chr 5:53,536,945...53,536,946 JBrowse link
V rs10252783 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,874,146...141,874,147 JBrowse link
V rs1049432 IAGP GWAS_CATALOG PMID:33731350 NCBI chr10:58,395,360...58,395,361 JBrowse link
V rs11064881 IAGP GWAS_CATALOG PMID:33731350
V rs11085148 IAGP GWAS_CATALOG PMID:37587338 NCBI chr19:631,028...631,029 JBrowse link
V rs11511098 IAGP GWAS_CATALOG PMID:37587338 NCBI chr10:30,299,274...30,299,275 JBrowse link
V rs11514837 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,762,245...141,762,246 JBrowse link
V rs116678323 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 2:73,942,001...73,942,002 JBrowse link
V rs11669381 IAGP GWAS_CATALOG PMID:37587338 NCBI chr19:619,772...619,773 JBrowse link
V rs11679052 IAGP GWAS_CATALOG PMID:33731350 NCBI chr 2:72,029,274...72,029,275 JBrowse link
V rs11761661 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:20,448,018...20,448,019 JBrowse link
V rs11979102 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,687,728...141,687,729 JBrowse link
V rs12461806 IAGP GWAS_CATALOG PMID:33731350
V rs128941 IAGP GWAS_CATALOG PMID:37587338 NCBI chr22:50,505,734...50,505,735 JBrowse link
V rs13815 IAGP GWAS_CATALOG PMID:37587338 NCBI chr22:43,133,308...43,133,309 JBrowse link
V rs143803034 IAGP GWAS_CATALOG PMID:33731350 NCBI chr 7:6,894,095...6,894,096 JBrowse link
V rs145232625 IAGP GWAS_CATALOG PMID:33731350
V rs17462840 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,744,614...141,744,615 JBrowse link
V rs1760940 IAGP GWAS_CATALOG PMID:37587338
V rs17706366 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,897,921...141,897,922 JBrowse link
V rs17850455 IAGP GWAS_CATALOG PMID:37587338 NCBI chr17:64,480,334...64,480,335 JBrowse link
V rs185932673 IAGP GWAS_CATALOG PMID:37587338 NCBI chr10:12,656,440...12,656,441 JBrowse link
V rs1884708 IAGP GWAS_CATALOG PMID:37587338 NCBI chr20:17,940,841...17,940,842 JBrowse link
V rs1991401 IAGP GWAS_CATALOG PMID:37587338
V rs200605061 IAGP GWAS_CATALOG PMID:33731350 NCBI chr15:53,815,535...53,815,539 JBrowse link
V rs2149642 IAGP GWAS_CATALOG PMID:33731350 NCBI chr20:7,033,798...7,033,799 JBrowse link
V rs2245946 IAGP GWAS_CATALOG PMID:37587338 NCBI chr22:43,132,234...43,132,235 JBrowse link
V rs2286639 IAGP GWAS_CATALOG PMID:33731350 NCBI chr 5:150,200,294...150,200,295 JBrowse link
V rs2301924 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,742,413...141,742,414 JBrowse link
V rs2366254 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,525,152...141,525,153 JBrowse link
V rs28539606 IAGP GWAS_CATALOG PMID:33731350 NCBI chr 6:32,658,797...32,658,798 JBrowse link
V rs28602228 IAGP GWAS_CATALOG PMID:33731350 NCBI chr  Y:1,294,784...1,294,785 JBrowse link
V rs35116446 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,755,895...141,755,896 JBrowse link
V rs370209610 IAGP GWAS_CATALOG PMID:33731350 NCBI chr19:39,246,936...39,246,937 JBrowse link
V rs4251979 IAGP GWAS_CATALOG PMID:33731350 NCBI chr 2:113,118,921...113,118,922 JBrowse link
V rs4397793 IAGP GWAS_CATALOG PMID:37587338 NCBI chr10:58,385,837...58,385,838 JBrowse link
V rs4933661 IAGP GWAS_CATALOG PMID:33731350 NCBI chr10:91,547,209...91,547,210 JBrowse link
V rs585168 IAGP GWAS_CATALOG PMID:37587338
V rs58678340 IAGP GWAS_CATALOG PMID:33731350 NCBI chr10:101,004,581...101,004,582 JBrowse link
V rs603412 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 1:20,588,925...20,588,926 JBrowse link
V rs62475516 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,948,730...141,948,731 JBrowse link
V rs62641680 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 2:73,938,926...73,938,927 JBrowse link
V rs7079024 IAGP GWAS_CATALOG PMID:37587338 NCBI chr10:3,403,476...3,403,477 JBrowse link
V rs70965770 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 2:73,934,754...73,934,755 JBrowse link
V rs73081554 IAGP GWAS_CATALOG PMID:33731350 NCBI chr 3:58,317,208...58,317,209 JBrowse link
V rs7319964 IAGP GWAS_CATALOG PMID:33731350 NCBI chr13:73,116,484...73,116,485 JBrowse link
V rs74874677 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 2:73,950,650...73,950,651 JBrowse link
V rs74996080 IAGP GWAS_CATALOG PMID:37587338 NCBI chr19:5,705,478...5,705,479 JBrowse link
V rs75464702 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,737,710...141,737,711 JBrowse link
V rs76599088 IAGP GWAS_CATALOG PMID:37587338 NCBI chr20:17,988,228...17,988,229 JBrowse link
V rs7810260 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:135,626,372...135,626,373 JBrowse link
V rs80336838 IAGP GWAS_CATALOG PMID:37587338 NCBI chr 7:141,637,174...141,637,175 JBrowse link
V rs9903862 IAGP GWAS_CATALOG PMID:37587338 NCBI chr17:30,879,415...30,879,416 JBrowse link
Term paths to the root
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Term Annotations click to browse term
  experimental factor 52367
    information entity 41340
      measurement 41333
        mitochondrial DNA measurement 16
          mitochondrial heteroplasmy measurement 0
paths to the root