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: rs137852976
rs137852976
1.000 0.040 14 95096172 missense variant A/C snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.800 1.000 1 2009 2009
dbSNP: rs886037672
rs886037672
1.000 0.040 14 95116680 stop gained G/A snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 4 2013 2016
dbSNP: rs886037704
rs886037704
0.925 0.080 14 95103856 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2009 2016
dbSNP: rs886037712
rs886037712
1.000 0.040 14 95096608 frameshift variant TCAG/- delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 4 2010 2015
dbSNP: rs137852979
rs137852979
1.000 0.040 14 95116575 stop gained G/A snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 3 2009 2015
dbSNP: rs754081635
rs754081635
1.000 0.040 14 95113166 stop gained G/A;C snv 4.0E-06
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 3 2009 2011
dbSNP: rs886037670
rs886037670
1.000 0.040 14 95124195 splice donor variant C/A;T snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 3 2009 2014
dbSNP: rs1060503640
rs1060503640
1.000 0.040 14 95108095 splice acceptor variant T/C snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 2 2009 2011
dbSNP: rs1131691192
rs1131691192
1.000 0.040 14 95105784 splice acceptor variant C/A snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 2 2009 2011
dbSNP: rs1555370248
rs1555370248
1.000 0.040 14 95106040 splice donor variant C/T snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 2 2009 2011
dbSNP: rs1566790572
rs1566790572
1.000 0.040 14 95116696 splice acceptor variant C/T snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 2 2009 2011
dbSNP: rs1566803555
rs1566803555
1.000 0.040 14 95124669 splice acceptor variant C/G snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 2 2009 2011
dbSNP: rs754818927
rs754818927
1.000 0.040 14 95115704 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 2 2015 2017
dbSNP: rs765059994
rs765059994
1.000 0.040 14 95099779 splice donor variant C/A;G snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 2 2009 2011
dbSNP: rs875989784
rs875989784
0.925 0.080 14 95096510 frameshift variant AAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs886037672
rs886037672
1.000 0.040 14 95116680 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2013 2014
dbSNP: rs886037674
rs886037674
1.000 0.040 14 95116520 frameshift variant AT/- del
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 2 2009 2015
dbSNP: rs886037683
rs886037683
1.000 0.040 14 95113091 splice donor variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2011 2014
dbSNP: rs886037704
rs886037704
0.925 0.080 14 95103856 stop gained G/T snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 2 2009 2015
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: rs1060503605
rs1060503605
1.000 0.040 14 95105764 stop gained G/A snv 4.0E-06
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1060503625
rs1060503625
0.882 0.080 14 95091289 missense variant G/A snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1131691194
rs1131691194
14 95096365 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1131691225
rs1131691225
14 95105698 stop gained C/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs137852978
rs137852978
1.000 0.040 14 95106198 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2009 2009