SETD4, SET domain containing 4, 54093

N. diseases: 15; N. variants: 5
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: rs16993864
rs16993864 		21 36074301 intron variant C/A snv 4.3E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs57716069
rs57716069 		21 36049325 intron variant C/T snv 4.4E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2835267
rs2835267 		0.827 0.080 21 36074727 intron variant T/C snv 0.63
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2835267
rs2835267 		0.827 0.080 21 36074727 intron variant T/C snv 0.63
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2835267
rs2835267 		0.827 0.080 21 36074727 intron variant T/C snv 0.63
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs2835267
rs2835267 		0.827 0.080 21 36074727 intron variant T/C snv 0.63
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2835267
rs2835267 		0.827 0.080 21 36074727 intron variant T/C snv 0.63
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2835267
rs2835267 		0.827 0.080 21 36074727 intron variant T/C snv 0.63
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3787728
rs3787728 		0.851 0.080 21 36071595 intron variant T/C snv 0.74
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs3787728
rs3787728 		0.851 0.080 21 36071595 intron variant T/C snv 0.74
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3787728
rs3787728 		0.851 0.080 21 36071595 intron variant T/C snv 0.74
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3787728
rs3787728 		0.851 0.080 21 36071595 intron variant T/C snv 0.74
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3787728
rs3787728 		0.851 0.080 21 36071595 intron variant T/C snv 0.74
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs9024
rs9024 		0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9024
rs9024 		0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs9024
rs9024 		0.882 0.160 21 36073015 3 prime UTR variant G/A snv 9.7E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014