Gene: DICER1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852976
rs137852976
DICER1
C 0.800 CausalMutation CLINVAR

dbSNP: rs754818927
rs754818927
DICER1
A 0.700 CausalMutation CLINVAR Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. 28323992

2017
dbSNP: rs1060503625
rs1060503625
DICER1
A 0.700 CausalMutation CLINVAR Functional characterization of multiple DICER1 mutations in an adolescent. 26545620

2016
dbSNP: rs886037672
rs886037672
DICER1
A 0.700 CausalMutation CLINVAR Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter. 27459524

2016
dbSNP: rs137852979
rs137852979
DICER1
A 0.700 CausalMutation CLINVAR Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. 26925222

2015
dbSNP: rs754818927
rs754818927
DICER1
A 0.700 CausalMutation CLINVAR Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. 26925222

2015
dbSNP: rs886037672
rs886037672
DICER1
A 0.700 CausalMutation CLINVAR Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. 26925222

2015
dbSNP: rs886037674
rs886037674
DICER1
C 0.700 CausalMutation CLINVAR Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. 26925222

2015
dbSNP: rs886037694
rs886037694
DICER1
TT 0.700 CausalMutation CLINVAR Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. 26925222

2015
dbSNP: rs886037704
rs886037704
DICER1
T 0.700 CausalMutation CLINVAR DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter. 25451712

2015
dbSNP: rs886037709
rs886037709
DICER1
CG 0.700 CausalMutation CLINVAR Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. 26925222

2015
dbSNP: rs886037712
rs886037712
DICER1
T 0.700 CausalMutation CLINVAR Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. 26925222

2015
dbSNP: rs1060503605
rs1060503605
DICER1
A 0.700 CausalMutation CLINVAR Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma. 24675358

2014
dbSNP: rs137852979
rs137852979
DICER1
A 0.700 CausalMutation CLINVAR Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. 24909177

2014
dbSNP: rs875989780
rs875989780
DICER1
C 0.700 CausalMutation CLINVAR Germ-line and somatic DICER1 mutations in pineoblastoma. 25022261

2014
dbSNP: rs878855246
rs878855246
DICER1
A 0.700 CausalMutation CLINVAR Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 24839956

2014
dbSNP: rs886037670
rs886037670
DICER1
T 0.700 CausalMutation CLINVAR DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. 25356068

2014
dbSNP: rs886037672
rs886037672
DICER1
A 0.700 CausalMutation CLINVAR Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 24839956

2014
dbSNP: rs886037712
rs886037712
DICER1
T 0.700 CausalMutation CLINVAR Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 24839956

2014
dbSNP: rs886037672
rs886037672
DICER1
A 0.700 CausalMutation CLINVAR Novel DICER1 mutation as cause of multinodular goiter in children. 23728841

2013
dbSNP: rs886037712
rs886037712
DICER1
T 0.700 CausalMutation CLINVAR DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. 22180160

2012
dbSNP: rs1060503640
rs1060503640
DICER1
C 0.700 GeneticVariation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384

2011
dbSNP: rs1131691192
rs1131691192
DICER1
A 0.700 CausalMutation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384

2011
dbSNP: rs1555370248
rs1555370248
DICER1
T 0.700 GeneticVariation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384

2011
dbSNP: rs1566790572
rs1566790572
DICER1
T 0.700 GeneticVariation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384

2011