MITF (Microphthalmia-associated transcription factor)
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DESCRIPTION
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Germline Genetics

Summary of germline evidence for MITF and cancer

  • Ensembl Gene ID: ENSG00000187098
  • Ensembl Transcript ID/s: ENST00000314557; ENST00000314589; ENST00000328528; ENST00000352241; ENST00000394351; ENST00000448226; ENST00000472437; ENST00000531774
  • Entrez Gene ID: 4286
  • HGNC Gene Symbol: MITF

Genome-wide association studies

MITF maps to cancer-SNP associations according to the following annotations:

SNPLocusPosition (b37)Risk alleleRAFP-valueEffect sizeCICancerPMIDCatalogTADLSDEPICT
1636_rs622460173p1371483084rs62246017-A0.331E-81.11[1.07-1.16]Squamous cell carcinoma26829030https://www.ebi.ac.uk/gwas/search?query=rs622460173:69980000-71820000--
1729_rs26872023p1370929983rs2687202-T2E-91.13[1.08-1.17]Barrett's esophagus or Esophageal adenocarcinoma27527254https://www.ebi.ac.uk/gwas/search?query=rs26872023:69980000-71820000--
1409_rs26872013p1370928930rs2687201-T0.3035E-91.18[1.12-1.25]Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)24121790https://www.ebi.ac.uk/gwas/search?query=rs26872013:69980000-71820000--
1552_rs21167093p1371621669rs2116709-A0.62E-171.1111112[NR]Basal cell carcinoma27539887https://www.ebi.ac.uk/gwas/search?query=rs21167093:69980000-71820000--
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