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: 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: 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: rs1057035
rs1057035 		0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2013 2017
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: rs3742330
rs3742330 		0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.020 1.000 2 2013 2018
dbSNP: rs3742330
rs3742330 		0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2015 2019
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: 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: 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: rs10144436
rs10144436 		1.000 0.040 14 95090065 3 prime UTR variant C/A snv 2.9E-02
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1057035
rs1057035 		0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1057035
rs1057035 		0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1057035
rs1057035 		0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1057035
rs1057035 		0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1057035
rs1057035 		0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057035
rs1057035 		0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019