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DICER1

From SNPedia
is agene
is mentioned by
Full namedicer 1, ribonuclease type III
EntrezGene23405
PheGenI23405
VariationViewer23405
ClinVarDICER1
GeneCardsDICER1
dbSNP23405
DiseasesDICER1
SADR23405
HugeNav23405
wikipediaDICER1
googleDICER1
gopubmedDICER1
EVSDICER1
HEFalMpDICER1
MyGene2DICER1
23andMeDICER1
UniProtQ9UPY3
EnsemblENSG00000100697
OMIM606241
# SNPs113
 Max MagnitudeChromosome positionSummary
rs1057035095,087,805
rs1060503583095,091,236
rs1060503584095,111,340
rs1060503591095,099,856
rs1060503596095,107,763
rs1060503605095,105,764
rs1060503617095,104,047
rs1060503625095,091,289
rs1060503627095,106,075
rs1060503628095,108,022
rs1060503633095,116,458
rs1060503640095,108,095
rs1060503662095,115,807
rs1060503665095,116,495
rs1064795904095,096,514
rs1232363595,159,374
rs13078095,090,410
rs137852976095,096,172
rs137852977095,117,624
rs137852978095,106,198
rs137852979095,116,575
rs184830847095,103,721
rs3742330095,087,025
rs377205344095,096,067
rs387906934095,108,014
rs715732295,116,207
rs748087536095,103,720
rs754081635095,113,166
rs754818927095,115,704
rs757094384095,124,576
rs763801533095,130,072
rs765059994095,099,779
rs768248216095,126,651
rs864622626095,130,142
rs875989779095,096,166
rs875989780095,094,149
rs875989781095,096,286
rs875989782
rs875989783095,103,345
rs875989784095,096,510
rs878855246095,113,106
rs878855262095,103,391
rs878855274095,093,936
rs886037650095,103,488
rs886037651095,103,780
rs886037667095,124,428
rs886037668095,124,385
rs886037669095,124,369
rs886037670095,124,195
rs886037671095,117,723
... further results

Mutations in the DICER1 gene may lead to DICER1-related disorder, a rare familial tumor susceptibility syndrome that confers increased risk most commonly for:

  • pleuropulmonary blastoma (PPB)
  • ovarian sex cord-stromal tumors (Sertoli-Leydig cell tumor [SLCT], juvenile granulosa cell tumor [JGCT], and gynandroblastoma);
  • cystic nephroma (CN)
  • thyroid gland neoplasia (multinodular goiter [MNG], adenomas, or differentiated thyroid cancer).


Even more rarely observed tumors are ciliary body medulloepithelioma (CBME); botryoid-type embryonal rhabdomyosarcoma (ERMS) of the cervix or other sites; nasal chondromesenchymal hamartoma (NCMH); renal sarcoma; pituitary blastoma; and pineoblastoma. Novel phenotypes continue to be discovered. The majority of tumors in families with a DICER1 germline pathogenic variant occur in individuals younger than age 40 years. PPB, a neoplasm that arises during lung development or shortly after birth, typically presents in infants and children younger than age six years. Age of onset of ovarian sex cord-stromal tumors is not well defined. CN presents in children younger than age four years.Gene Reviews

DICER1-related disorders are inherited in an autosomal dominant manner, and more than 180 mutations are known. The ClinGen Actionability Working Group has a summary of recommended actions here.