Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8111874
rs8111874
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.710 GeneticVariation BEFREE The meta-analysis (N = 5758) followed by replication (N = 3784) identified a genome-wide significant association between rs8111874 and diarrhoea at age 1 year. 27559109

2016

dbSNP: rs1045642
rs1045642
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.050 GeneticVariation BEFREE Associations were found between toxicities and gene variants (P<0.05), including neutropenia with ABCB1 (rs1045642) and SLC0B3 (rs4149117 and rs7311358); and diarrhoea with CYP2C9 (rs1057910), CYP2C19 (rs3758581), UGT1A6 (rs4124874) and SLC22A1 (rs72552763). 28817838

2017

dbSNP: rs1045642
rs1045642
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.050 GeneticVariation BEFREE No significant differences were found in the AUC0-24 or C0 for gefitinib or in the frequency of diarrhea, skin rash or hepatotoxicity among the CYP3A4, CYP3A5, CYP2D6, ABCG2 (421C>A), and ABCB1 (1236C>T, 2677G>T/A, and 3435C>T) genotype groups. 25554506

2015

dbSNP: rs1045642
rs1045642
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.050 GeneticVariation BEFREE In irinotecan-treated patients, T allele of ABCB1C1236T SNP was associated with a lower risk of asthenia(OR = 0.047; 95 % CI = 0.004–0.493; P = 0.011) and Tallele of ABCB1 C3435T SNP was associated with a lower risk of diarrhea (OR = 0.177; 95 % CI = 0.034–0.919;P = 0.039), and individuals with two copies of GSTT1 gene had a lower risk for asthenia (OR = 0.093; 95 %CI = 0.011–0.794; P = 0.030). 23543295

2013

dbSNP: rs1045642
rs1045642
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.050 GeneticVariation BEFREE Statistical associations were observed, suggesting a lower risk of neutropenia (p = 0.013) and hand-foot syndrome (HFS; p = 0.027) for the carriers of T variation for rs1128503 in capecitabine-treated patients, carriers of T variation for rs1045642 treated with capecitabine had a lower risk of HFS (p = 0.033), while those treated with 5-FU had a higher risk of diarrhea (p = 0.035), and carriers of T variation for rs2032592 treated with capecitabine were at less risk of developing HFS (p = 0.033). 21142915

2010

dbSNP: rs1045642
rs1045642
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.050 GeneticVariation BEFREE PG analysis showed that ABCB1 (C3435T)T/T (membrane transport) was associated with IP-related diarrhea; UGT1A1 (G-3156A)A/A (drug metabolism) was associated with IP-related neutropenia. 19349543

2009

dbSNP: rs2231142
rs2231142
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.030 GeneticVariation BEFREE Particularly, the afatinib plasma concentration was higher and diarrhea was more severe in patients carrying the A allele of ABCG2 C421A. 31319966

2019

dbSNP: rs2231142
rs2231142
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.030 GeneticVariation BEFREE This study demonstrates that the ABCG2 Q141K </span>polymorphism may correlate with chemotherapy-induced di</span>arrhea in patients with DLBCL who have received frontline R-CHOP chemotherapy, and this has implications for optimizing treatment with such agents. 19032367

2008

dbSNP: rs2231142
rs2231142
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.030 GeneticVariation BEFREE One variant, a common functional single-nucleotide polymorphism (SNP) in the ABCG2 gene, was associated with diarrhea in 124 patients treated with oral gefitinib 250 mg once daily; seven (44%) of 16 patients heterozygous for ABCG2 421C>A (Q141K) developed diarrhea, versus only 13 (12%) of 108 patients homozygous for the wild-type sequence (P = .0046). 17148776

2006

dbSNP: rs4149056
rs4149056
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.030 GeneticVariation BEFREE Of these, 19 sets gave relatively good description of the effect of UGT1A1 *28 and SLCO1B1 c.521T>C polymorphism on the SN-38 plasma concentration, neutropenia, and diarrhea observed in clinical studies reported mainly by Teft et al.(Br J Cancer.112(5):857-65, 20). 28397089

2017

dbSNP: rs4149056
rs4149056
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.030 GeneticVariation BEFREE Polymorphisms in SLCO1B1 (rs2306283, rs4149056) were associated with diarrhea and thrombocytopenia, respectively. 27533851

2016

dbSNP: rs4149056
rs4149056
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.030 GeneticVariation BEFREE Meta-analysis showed east-Asian patients expressing SLCO1B1 521T>C or 1118G>A to have a two- to fourfold increased risk of irinotecan-induced neutropenia but not diarrhea. 27380948

2016

dbSNP: rs1128503
rs1128503
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation BEFREE Patients with ABCB1 rs1128503 TT genotype had greater risk of skin rash and diarrhea. 27089937

2017

dbSNP: rs1128503
rs1128503
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation BEFREE Statistical associations were observed, suggesting a lower risk of neutropenia (p = 0.013) and hand-foot syndrome (HFS; p = 0.027) for the carriers of T variation for rs1128503 in capecitabine-treated patients, carriers of T variation for rs1045642 treated with capecitabine had a lower risk of HFS (p = 0.033), while those treated with 5-FU had a higher risk of diarrhea (p = 0.035), and carriers of T variation for rs2032592 treated with capecitabine were at less risk of developing HFS (p = 0.033). 21142915

2010

dbSNP: rs1801019
rs1801019
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation BEFREE The multivariate logistic regression revealed that OPRT 638G>C polymorphism was associated with grade 3 diarrhea [odds ratio (OR) 19.84 for patients with the C/C homozygous type compared with patients with wild type, P = 0.014] and polymorphisms of UGT1A1 were associated with hyperbilirubinemia (OR 38.76 for homozygotes and double heterozygotes of *6 or *28 compared with wild type, P = 0.0008). 20647221

2011

dbSNP: rs1801019
rs1801019
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation BEFREE The Ala allele in OPRT Gly213Ala polymorphism and the two tandem repeats (2R) in TYMS promoter polymorphism were associated with grade 3 to 4 neutropenia and diarrhea. 16818689

2006

dbSNP: rs211105
rs211105
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation BEFREE Only the group of patients with diarrhea-predominant irritable bowel syndrome showed a significant correlation between the TPH1 rs211105 T/T genotype and lower scores for role physical and mental health, and higher scores for indigestion and diarrhea. 29892168

2018

dbSNP: rs211105
rs211105
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation BEFREE The mean scores of diarrhea at baseline were significantly higher (5.2 vs 3.7, p = 0.005) in patients with TPH1 rs211105 T/T than those with the G allele. 25428414

2015

dbSNP: rs2227983
rs2227983
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation BEFREE The -191C>A, intron 1 CA repeat number and Arg497Lys genotypes were not significantly associated with either rash or diarrhoea. 20621735

2010

dbSNP: rs2227983
rs2227983
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation BEFREE In contrast, EGFR-activating mutations were significantly correlated with response, longer time-to-progression, and overall survival, whereas EGFR -191C/A (P < 0.001), -216 G/T (P < 0.01), and R497K (P = 0.02) polymorphisms were strongly associated with grade >1 diarrhea. 20159991

2010

dbSNP: rs67376798
rs67376798
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation BEFREE DPYD T85C, T1896C and A2846T mutant variants were associated with diarrhea (P < 0.05) and HFS (P < 0.02), and IVS14+1G>A additionally with diarrhea (P < 0.001). 25677447

2015

dbSNP: rs67376798
rs67376798
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation BEFREE The DPYD*2A variant statistically significantly associated with the specific AEs nausea/vomiting (P = .007) and neutropenia (P < .001), whereas D949V statistically significantly associated with dehydration (P = .02), diarrhea (P = .003), leukopenia (P = .002), neutropenia (P < .001), and thrombocytopenia (P < .001). 25381393

2014

dbSNP: rs1042597
rs1042597
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.010 GeneticVariation BEFREE Multivariate analysis showed that patients on TAC or SIR had a 2.8 higher risk of diarrhoea than patients on CsA (HR = 2.809; 95%CI (1.730, 4.545); P < 0.0001) and that non-carriers of the UGT1A8 2 allele (CC518 genotype) had a higher risk of diarrhoea than carriers (C518G and 518GG genotypes) (HR = 1.876; 95%CI (1.109, 3.175); P = 0.0192). 20565459

2010

dbSNP: rs10474485
rs10474485
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.010 GeneticVariation BEFREE However, IBS subjects with diarrhea symptoms without the rs10474485 A allele showed a significantly higher emotional state score than carriers. 26882083

2016

dbSNP: rs1050274678
rs1050274678
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.010 GeneticVariation BEFREE Meta-analysis showed east-Asian patients expressing SLCO1B1 521T>C or 1118G>A to have a two- to fourfold increased risk of irinotecan-induced neutropenia but not diarrhea. 27380948

2016