Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12122803
rs12122803
Entrez Id: 55732
Gene Symbol: C1orf112
C1orf112
CUI: C1861172
Disease:
Venous Thromboembolism
0.700 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs185120584
rs185120584
Entrez Id: 55732
Gene Symbol: C1orf112
C1orf112
CUI: C1861172
Disease:
Venous Thromboembolism
0.700 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1861172
Disease:
Venous Thromboembolism
0.010 GeneticVariation BEFREE Homozygosity for the S128R E-selectin allele appears to increase the risk for recurrent VTE several fold. 16908800 2006
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1861172
Disease:
Venous Thromboembolism
0.010 GeneticVariation BEFREE Homozygosity for the S128R E-selectin allele appears to increase the risk for recurrent VTE several fold. 16908800 2006
dbSNP: rs12938
rs12938
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0042373
Disease:
Vascular Diseases
0.010 GeneticVariation BEFREE We identified increased levels of soluble L-selectin (sL-selectin), but not soluble E-selectin (sE-selectin) in 278 European-Caucasian lupus patients compared to 230 healthy siblings (P=0.002). sL-selectin levels were markedly elevated in patients with IgG antiphospholipid autoantibodies (P=0.002), suggesting that perhaps sL-selectin defines a subgroup of lupus with vasculopathy. sL-selectin level was also influenced by two L-selectin polymorphisms: 665C>T, F206L in the epidermal growth factor-like domain (P=0.015) and rs12938 in the 3'-untranslated region (P=0.06). 15902275 2005
dbSNP: rs1131498
rs1131498
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE Subgroup analysis showed that the L206 allele and F/L206 genotype frequencies were significantly increased in UC patients with left-sided type; whereas, the F/L206 genotype was significant in CD patients with ileocolonic location and stricturing behavior compared with controls. 19212205 2009
dbSNP: rs5355
rs5355
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE We investigate seven mutations in CAM: G241R and K469E in ICAM-1, V125L in PECAM-1, G98T, S128R, and L554F in E-selectin and F206L in L-selectin in 197 Tunisian patients (73 with UC and 124 with CD) and 194 controls. 19212205 2009
dbSNP: rs3917412
rs3917412
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1269955
Disease:
Tumor Cell Invasion
0.010 GeneticVariation BEFREE The combination of the selectin E (SELE) rs3917412 G>A G/G and the methylentetrahydrofolate reductase (MTHFR) rs1801133 T/T genotypes was associated with a significantly increased risk for recurrence in both the training [RR = 4.103; 95% confidence interval (CI), 1.803-9.334; P = 0.001] and the validation cohorts (RR = 3.567; 95% CI, 1.253-10.151; P = 0.017) in the multiple regression analysis considering the stage, lymphovascular invasion, and bowel perforation as covariates. 24980946 2014
dbSNP: rs1131498
rs1131498
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE Based on the findings, the incidence of TB and L-selectin polymorphism in the Phe206Leu gene had no significant association. 29430726 2018
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0699791
Disease:
Stomach Carcinoma
0.020 GeneticVariation BEFREE The E-selectin S128R C allele may confer an increased susceptibility to gastric cancer development and correlate with a poor prognosis. 23015400 2013
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0699791
Disease:
Stomach Carcinoma
0.020 GeneticVariation BEFREE We concluded E-selectin variant rs5361 and FCGR2A variant rs1801274 were significantly associated with gastric cancer risk. 21780194 2012
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE The E-selectin S128R C allele may confer an increased susceptibility to gastric cancer development and correlate with a poor prognosis. 23015400 2013
dbSNP: rs3917412
rs3917412
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0280252
Disease:
stage, colon cancer
0.010 GeneticVariation BEFREE Our findings suggest that the SELE rs3917412 and MTHFR rs1801133 SNPs could serve as pharmacogenetic predictors of tumor recurrence in patients with early-stage colon cancer treated with oxaliplatin-based adjuvant chemotherapy, thus allowing personalized selection of treatment to optimize clinical outcomes. 24980946 2014
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0268800
Disease:
Simple renal cyst
0.010 GeneticVariation BEFREE The role of serum E-selectin level and E-selectin gene S128R polymorphism on the enlargement of renal cyst in patients with polycystic kidney disease: Genetic background of renal cyst growth
. 31746731 2020
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0268800
Disease:
Simple renal cyst
0.010 GeneticVariation BEFREE The role of serum E-selectin level and E-selectin gene S128R polymorphism on the enlargement of renal cyst in patients with polycystic kidney disease: Genetic background of renal cyst growth
. 31746731 2020
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C2939419
Disease:
Secondary Neoplasm
0.010 GeneticVariation BEFREE We postulated that some polymorphisms within the E-selectin gene, especially the S128R polymorphism, may increase the risk of metastases by facilitating adhesion of tumour cells to the endothelium. 19361981 2009
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C2939419
Disease:
Secondary Neoplasm
0.010 GeneticVariation BEFREE We postulated that some polymorphisms within the E-selectin gene, especially the S128R polymorphism, may increase the risk of metastases by facilitating adhesion of tumour cells to the endothelium. 19361981 2009
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C3887499
Disease:
Renal cyst
0.010 GeneticVariation BEFREE The role of serum E-selectin level and E-selectin gene S128R polymorphism on the enlargement of renal cyst in patients with polycystic kidney disease: Genetic background of renal cyst growth
. 31746731 2020
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C3887499
Disease:
Renal cyst
0.010 GeneticVariation BEFREE The role of serum E-selectin level and E-selectin gene S128R polymorphism on the enlargement of renal cyst in patients with polycystic kidney disease: Genetic background of renal cyst growth
. 31746731 2020
dbSNP: rs3917412
rs3917412
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0521158
Disease:
Recurrent tumor
0.010 GeneticVariation BEFREE Our findings suggest that the SELE rs3917412 and MTHFR rs1801133 SNPs could serve as pharmacogenetic predictors of tumor recurrence in patients with early-stage colon cancer treated with oxaliplatin-based adjuvant chemotherapy, thus allowing personalized selection of treatment to optimize clinical outcomes. 24980946 2014
dbSNP: rs1805193
rs1805193
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C2937365
Disease:
Recurrent aphthous ulcer
0.010 GeneticVariation BEFREE There was a significant association of the A allele (Pcorr  = 0.027), AA and AC genotypes (OR = 10.9 and 9.0, respectively) of the E-selectin rs5361 gene polymorphism and TAA haplotype (rs2205849, rs5361, and rs1805193, respectively; P = 0.03) with RAS. 23772946 2013
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C2937365
Disease:
Recurrent aphthous ulcer
0.010 GeneticVariation BEFREE This is the first report to link inheritance of the A allele, AA and AC genotypes of the E-selectin rs5361 polymorphism with increased risk of RAS. 23772946 2013
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Our meta-analysis revealed that there was association between the E-selectin S128R polymorphism and the risk of cancer. 24815478 2014
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE E-selectin S128R "C" allele may confer an increased susceptibility to pancreatic cancer development, while its carriage status does not appear to be related to the aggressive features of this malignancy. 20607758 2010
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE E-selectin S128R "C" allele may confer an increased susceptibility to pancreatic cancer development, while its carriage status does not appear to be related to the aggressive features of this malignancy. 20607758 2010