DICER1, dicer 1, ribonuclease III, 23405

N. diseases: 302; N. variants: 191
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060503583
rs1060503583 		1.000 0.040 14 95091236 stop gained G/A;C snv 4.0E-06
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1060503584
rs1060503584 		1.000 0.040 14 95111340 stop gained G/A snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1060503596
rs1060503596 		1.000 0.040 14 95107763 splice acceptor variant T/C snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1060503617
rs1060503617 		1.000 0.040 14 95104047 stop gained C/A snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1060503625
rs1060503625 		0.882 0.080 14 95091289 missense variant G/A snv
CUI: C1867234
Disease: Rhabdomyosarcoma, Embryonal, 2
Rhabdomyosarcoma, Embryonal, 2 		Neoplasms 0.700 0
dbSNP: rs1060503625
rs1060503625 		0.882 0.080 14 95091289 missense variant G/A snv
CUI: C0018022
Disease: Endemic goiter
Endemic goiter 		Endocrine System Diseases 0.700 0
dbSNP: rs1060503627
rs1060503627 		1.000 0.040 14 95106075 frameshift variant G/- delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1060503628
rs1060503628 		1.000 0.040 14 95108022 frameshift variant GA/- del
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1060503633
rs1060503633 		1.000 0.040 14 95116458 frameshift variant C/- del
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1060503662
rs1060503662 		1.000 0.040 14 95115807 frameshift variant C/- del
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1060503665
rs1060503665 		1.000 0.040 14 95116495 frameshift variant ATTTT/- delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1064795904
rs1064795904 		1.000 0.040 14 95096514 frameshift variant GA/- delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1131691189
rs1131691189 		14 95105752 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691190
rs1131691190 		14 95124246 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691191
rs1131691191 		14 95103858 frameshift variant AAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691192
rs1131691192 		1.000 0.040 14 95105784 splice acceptor variant C/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691193
rs1131691193 		14 95116472 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691195
rs1131691195 		14 95099900 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691196
rs1131691196 		14 95095936 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691197
rs1131691197 		1.000 0.040 14 95096461 frameshift variant -/T delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1131691197
rs1131691197 		1.000 0.040 14 95096461 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691198
rs1131691198 		14 95126606 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691199
rs1131691199 		14 95094017 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691200
rs1131691200 		14 95095994 frameshift variant ACAA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691201
rs1131691201 		14 95096108 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0