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: 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: rs1131691216
rs1131691216 		14 95099914 frameshift variant -/A delins 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691229
rs1131691229 		14 95096262 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: rs1555375978
rs1555375978 		1.000 0.040 14 95130171 frameshift variant -/A delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs875989781
rs875989781 		1.000 0.080 14 95096286 frameshift variant -/A delins
CUI: C0205898
Disease: pineoblastoma
pineoblastoma 		Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs886037697
rs886037697 		1.000 0.040 14 95105164 frameshift variant -/A delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs886037714
rs886037714 		1.000 0.040 14 95096493 frameshift variant -/A ins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1131691223
rs1131691223 		14 95091297 inframe insertion -/ATCCCCCAT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691213
rs1131691213 		14 95111385 frameshift variant -/ATGCAAA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1131691202
rs1131691202 		14 95096655 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555371596
rs1555371596 		1.000 0.040 14 95111372 frameshift variant -/CT delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs886037679
rs886037679 		1.000 0.040 14 95115746 frameshift variant -/CT ins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs886037679
rs886037679 		1.000 0.040 14 95115746 frameshift variant -/CT ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs886037720
rs886037720 		1.000 0.040 14 95095958 frameshift variant -/CT delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs886037720
rs886037720 		1.000 0.040 14 95095958 frameshift variant -/CT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs886037709
rs886037709 		1.000 0.040 14 95103618 frameshift variant -/G delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 1.000 2 2011 2015
dbSNP: rs1131691209
rs1131691209 		14 95117668 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: rs1131691212
rs1131691212 		14 95124634 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: rs1566766788
rs1566766788 		1.000 0.040 14 95103438 frameshift variant -/G delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs886037725
rs886037725 		1.000 0.040 14 95094057 frameshift variant -/G delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		Neoplasms 0.700 0
dbSNP: rs1555371565
rs1555371565 		1.000 0.040 14 95111324 frameshift variant -/GTAG delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma 		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: 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