Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913028
rs121913028
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1853100
Disease:
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.800 GeneticVariation UNIPROT Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
dbSNP: rs121913028
rs121913028
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1853100
Disease:
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.800 GeneticVariation UNIPROT First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007
dbSNP: rs121913028
rs121913028
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1853100
Disease:
CEREBROOCULOFACIOSKELETAL SYNDROME 4
C 0.800 CausalMutation CLINVAR
dbSNP: rs121913028
rs121913028
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0009207
Disease:
Cockayne Syndrome
C 0.700 CausalMutation CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
dbSNP: rs150584960
rs150584960
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1853100
Disease:
CEREBROOCULOFACIOSKELETAL SYNDROME 4
A 0.700 GeneticVariation CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
dbSNP: rs886039224
rs886039224
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0009207
Disease:
Cockayne Syndrome
A 0.700 CausalMutation CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
dbSNP: rs121913027
rs121913027
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1853100
Disease:
CEREBROOCULOFACIOSKELETAL SYNDROME 4
A 0.700 CausalMutation CLINVAR
dbSNP: rs879255589
rs879255589
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1864761
Disease:
Thyroid Hormone Metabolism, Abnormal
C 0.700 CausalMutation CLINVAR
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.100 GeneticVariation BEFREE In addition, no evidence of association was observed between prognosis in osteosarcoma and <i>ERCC1</i> rs11615, <i>ERCC1</i> rs3212986, <i>ERCC1</i> rs2298881, <i>ERCC2</i> rs13181, <i>ERCC4</i> rs1800067, and <i>ERCC5</i> rs1047768 polymorphisms. 29950854 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.100 GeneticVariation BEFREE The ERCC2-rs1799793 AA+AC > CC (OR=1.3428, 95% CI=1.0201; 1.7674) had an effect on the risk of osteosarcoma development, whereas, there were no significant associations among the other ERCC SNPs (ERCC1 rs3212986, ERCC1 rs11615, and ERCC2 rs13181) and osteosarcoma. 30402838 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE The ERCC2-rs1799793 AA+AC > CC (OR=1.3428, 95% CI=1.0201; 1.7674) had an effect on the risk of osteosarcoma development, whereas, there were no significant associations among the other ERCC SNPs (ERCC1 rs3212986, ERCC1 rs11615, and ERCC2 rs13181) and osteosarcoma. 30402838 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE In addition, no evidence of association was observed between prognosis in osteosarcoma and <i>ERCC1</i> rs11615, <i>ERCC1</i> rs3212986, <i>ERCC1</i> rs2298881, <i>ERCC2</i> rs13181, <i>ERCC4</i> rs1800067, and <i>ERCC5</i> rs1047768 polymorphisms. 29950854 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.100 GeneticVariation BEFREE The ERCC2-rs1799793 AA+AC > CC (OR=1.3428, 95% CI=1.0201; 1.7674) had an effect on the risk of osteosarcoma development, whereas, there were no significant associations among the other ERCC SNPs (ERCC1 rs3212986, ERCC1 rs11615, and ERCC2 rs13181) and osteosarcoma. 30402838 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.100 GeneticVariation BEFREE In addition, no evidence of association was observed between prognosis in osteosarcoma and <i>ERCC1</i> rs11615, <i>ERCC1</i> rs3212986, <i>ERCC1</i> rs2298881, <i>ERCC2</i> rs13181, <i>ERCC4</i> rs1800067, and <i>ERCC5</i> rs1047768 polymorphisms. 29950854 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.100 GeneticVariation BEFREE ERCC1 (C118T (rs11615) and C8092A (rs3212986)) and ERCC2 (A751C (rs171140) and G312A (rs1799793)) polymorphisms were analysed in 44 patients with osteosarcoma, who were treated with cisplatin based neoadjuvant chemotherapy. 29980176 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.100 GeneticVariation BEFREE ERCC1 (C118T (rs11615) and C8092A (rs3212986)) and ERCC2 (A751C (rs171140) and G312A (rs1799793)) polymorphisms were analysed in 44 patients with osteosarcoma, who were treated with cisplatin based neoadjuvant chemotherapy. 29980176 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE ERCC1 (C118T (rs11615) and C8092A (rs3212986)) and ERCC2 (A751C (rs171140) and G312A (rs1799793)) polymorphisms were analysed in 44 patients with osteosarcoma, who were treated with cisplatin based neoadjuvant chemotherapy. 29980176 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.100 GeneticVariation BEFREE Haplotype containing the rs1799793-T and rs11615-T alleles was associated with a statistically increased osteosarcoma risk, OR (95% CI) = 1.47 (1.12-1.92). 28474168 2017
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE Haplotype containing the rs1799793-T and rs11615-T alleles was associated with a statistically increased osteosarcoma risk, OR (95% CI) = 1.47 (1.12-1.92). 28474168 2017
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.100 GeneticVariation BEFREE This suggests rs11615 may be a useful genetic marker for predicting osteosarcoma prognosis. 28977987 2017
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE This suggests rs11615 may be a useful genetic marker for predicting osteosarcoma prognosis. 28977987 2017
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.100 GeneticVariation BEFREE Haplotype containing the rs1799793-T and rs11615-T alleles was associated with a statistically increased osteosarcoma risk, OR (95% CI) = 1.47 (1.12-1.92). 28474168 2017
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.100 GeneticVariation BEFREE This suggests rs11615 may be a useful genetic marker for predicting osteosarcoma prognosis. 28977987 2017
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.100 GeneticVariation BEFREE In summary, our results suggested that the ERCC1 rs11615 and rs2298881 polymorphisms play important roles in the response to chemotherapy mediated by the DNA repair pathway and in the clinical outcome of osteosarcoma. 26345951 2015
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.100 GeneticVariation BEFREE In summary, our results suggested that the ERCC1 rs11615 and rs2298881 polymorphisms play important roles in the response to chemotherapy mediated by the DNA repair pathway and in the clinical outcome of osteosarcoma. 26345951 2015