SETD4, SET domain containing 4, 54093

N. diseases: 15; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16993864
rs16993864
Entrez Id: 54093;100133286
Gene Symbol: SETD4;LOC100133286
SETD4;LOC100133286
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs57716069
rs57716069
Entrez Id: 54093
Gene Symbol: SETD4
SETD4
CUI: C2985280
Disease:
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs2835267
rs2835267
Entrez Id: 54093;100133286
Gene Symbol: SETD4;LOC100133286
SETD4;LOC100133286
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE The CBR1 rs3787728 cytosine (C)/C allele homozygote was associated with a decreased risk of adenocarcinoma (ADC) in male patients (OR=0.633; 95% CI=0.413-0.969; P=0.0348); however, no significant association was observed in CBR1 rs2835267 between SNPs and SCC or ADC-type NSCLC. 29113280 2017
dbSNP: rs2835267
rs2835267
Entrez Id: 54093;100133286
Gene Symbol: SETD4;LOC100133286
SETD4;LOC100133286
CUI: C0149782
Disease:
Squamous cell carcinoma of lung
0.010 GeneticVariation BEFREE The CBR1 rs3787728 cytosine (C)/C allele homozygote was associated with a decreased risk of adenocarcinoma (ADC) in male patients (OR=0.633; 95% CI=0.413-0.969; P=0.0348); however, no significant association was observed in CBR1 rs2835267 between SNPs and SCC or ADC-type NSCLC. 29113280 2017
dbSNP: rs2835267
rs2835267
Entrez Id: 54093;100133286
Gene Symbol: SETD4;LOC100133286
SETD4;LOC100133286
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The CBR1 rs3787728 cytosine (C)/C allele homozygote was associated with a decreased risk of adenocarcinoma (ADC) in male patients (OR=0.633; 95% CI=0.413-0.969; P=0.0348); however, no significant association was observed in CBR1 rs2835267 between SNPs and SCC or ADC-type NSCLC. 29113280 2017
dbSNP: rs3787728
rs3787728
Entrez Id: 873;54093;100133286
Gene Symbol: CBR1;SETD4;LOC100133286
CBR1;SETD4;LOC100133286
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE The CBR1 rs3787728 cytosine (C)/C allele homozygote was associated with a decreased risk of adenocarcinoma (ADC) in male patients (OR=0.633; 95% CI=0.413-0.969; P=0.0348); however, no significant association was observed in CBR1 rs2835267 between SNPs and SCC or ADC-type NSCLC. 29113280 2017
dbSNP: rs3787728
rs3787728
Entrez Id: 873;54093;100133286
Gene Symbol: CBR1;SETD4;LOC100133286
CBR1;SETD4;LOC100133286
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The CBR1 rs3787728 thymine (T)/T allele homozygote was associated with an increased risk of NSCLC in all patients (OR=1.382; 95% CI=1.019-1.875; P=0.037), and patients possessing the rs3787728 T/T major allele homozygote exhibited a 1.537-fold greater risk with respect to developing lung squamous-cell carcinoma (SCC) in all patients (95% CI=1.019-2.318; P=0.0395). 29113280 2017
dbSNP: rs3787728
rs3787728
Entrez Id: 873;54093;100133286
Gene Symbol: CBR1;SETD4;LOC100133286
CBR1;SETD4;LOC100133286
CUI: C0149782
Disease:
Squamous cell carcinoma of lung
0.010 GeneticVariation BEFREE The CBR1 rs3787728 thymine (T)/T allele homozygote was associated with an increased risk of NSCLC in all patients (OR=1.382; 95% CI=1.019-1.875; P=0.037), and patients possessing the rs3787728 T/T major allele homozygote exhibited a 1.537-fold greater risk with respect to developing lung squamous-cell carcinoma (SCC) in all patients (95% CI=1.019-2.318; P=0.0395). 29113280 2017
dbSNP: rs9024
rs9024
Entrez Id: 873;54093;100133286
Gene Symbol: CBR1;SETD4;LOC100133286
CBR1;SETD4;LOC100133286
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Among these 17 poly-miRTS, five Ara-C metabolic gene single nucleotide polymorphisms (SNPs, NT5C2 rs10786736 and rs8139, SLC29A1 rs3734703, DCTD rs7278, and RRM1 rs1042919) were identified to significantly associate with complete AML remission and/or overall and relapse-free survival (OS and RFS, respectively), and four anthracycline-metabolic gene SNPs (ABCC1 rs3743527, rs212091, and rs212090 and CBR1 rs9024) were significantly associated with chemotherapy-related toxicities. 29141648 2017
dbSNP: rs2835267
rs2835267
Entrez Id: 54093;100133286
Gene Symbol: SETD4;LOC100133286
SETD4;LOC100133286
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE One SNP in CBR1 (rs2835267) was significantly associated with overall risk of lung cancer, but did not pass multiple testing adjustment (OR: 0.76 95% CI: 0.58-0.99, P = 0.048, FDR P = 0.20). 24976539 2015
dbSNP: rs2835267
rs2835267
Entrez Id: 54093;100133286
Gene Symbol: SETD4;LOC100133286
SETD4;LOC100133286
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE One SNP in CBR1 (rs2835267) was significantly associated with overall risk of lung cancer, but did not pass multiple testing adjustment (OR: 0.76 95% CI: 0.58-0.99, P = 0.048, FDR P = 0.20). 24976539 2015
dbSNP: rs2835267
rs2835267
Entrez Id: 54093;100133286
Gene Symbol: SETD4;LOC100133286
SETD4;LOC100133286
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE One SNP in CBR1 (rs2835267) was significantly associated with overall risk of lung cancer, but did not pass multiple testing adjustment (OR: 0.76 95% CI: 0.58-0.99, P = 0.048, FDR P = 0.20). 24976539 2015
dbSNP: rs3787728
rs3787728
Entrez Id: 873;54093;100133286
Gene Symbol: CBR1;SETD4;LOC100133286
CBR1;SETD4;LOC100133286
CUI: C0149925
Disease:
Small cell carcinoma of lung
0.010 GeneticVariation BEFREE Another SNP located in CBR1 (rs3787728) also showed a significant decreased risk in SCC (OR: 0.4695% CI: 0.26-0.80, P = 0.024) and small cell carcinoma (only in current smokers) (OR: 0.06895% CI: 0.01-0.42, P = 0.028). 24976539 2015
dbSNP: rs3787728
rs3787728
Entrez Id: 873;54093;100133286
Gene Symbol: CBR1;SETD4;LOC100133286
CBR1;SETD4;LOC100133286
CUI: C0262584
Disease:
Carcinoma, Small Cell
0.010 GeneticVariation BEFREE Another SNP located in CBR1 (rs3787728) also showed a significant decreased risk in SCC (OR: 0.4695% CI: 0.26-0.80, P = 0.024) and small cell carcinoma (only in current smokers) (OR: 0.06895% CI: 0.01-0.42, P = 0.028). 24976539 2015
dbSNP: rs9024
rs9024
Entrez Id: 873;54093;100133286
Gene Symbol: CBR1;SETD4;LOC100133286
CBR1;SETD4;LOC100133286
CUI: C4521042
Disease:
Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE CBR1 rs9024 genotype status impacts on cardiac CBR1 expression in non-DS hearts. 24562808 2014
dbSNP: rs9024
rs9024
Entrez Id: 873;54093;100133286
Gene Symbol: CBR1;SETD4;LOC100133286
CBR1;SETD4;LOC100133286
CUI: C0013080
Disease:
Down Syndrome
0.010 GeneticVariation BEFREE CBR1 rs9024 genotype status impacts on cardiac CBR1 expression in non-DS hearts. 24562808 2014