Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852976
rs137852976
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		C 0.800 CausalMutation CLINVAR

dbSNP: rs1060503583
rs1060503583
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503584
rs1060503584
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503596
rs1060503596
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503605
rs1060503605
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma. 24675358

2014
dbSNP: rs1060503617
rs1060503617
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503625
rs1060503625
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR Functional characterization of multiple DICER1 mutations in an adolescent. 26545620

2016
dbSNP: rs1060503625
rs1060503625
DICER1
CUI: C1867234
Disease: Rhabdomyosarcoma, Embryonal, 2
Rhabdomyosarcoma, Embryonal, 2 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503625
rs1060503625
DICER1
CUI: C0018022
Disease: Endemic goiter
Endemic goiter 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503625
rs1060503625
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503627
rs1060503627
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503628
rs1060503628
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503633
rs1060503633
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503640
rs1060503640
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		C 0.700 GeneticVariation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384

2011
dbSNP: rs1060503640
rs1060503640
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		C 0.700 GeneticVariation CLINVAR DICER1 mutations in familial pleuropulmonary blastoma. 19556464

2009
dbSNP: rs1060503662
rs1060503662
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503665
rs1060503665
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1064795904
rs1064795904
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691189
rs1131691189
DICER1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691190
rs1131691190
DICER1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs1131691191
rs1131691191
DICER1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691192
rs1131691192
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 21266384

2011
dbSNP: rs1131691192
rs1131691192
DICER1
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		A 0.700 CausalMutation CLINVAR DICER1 mutations in familial pleuropulmonary blastoma. 19556464

2009
dbSNP: rs1131691192
rs1131691192
DICER1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691193
rs1131691193
DICER1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GT 0.700 CausalMutation CLINVAR