ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
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: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.060 0.833 6 2016 2019
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.060 0.833 6 2016 2019
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.050 0.800 5 2016 2018
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2015 2016
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2015 2016
dbSNP: rs1323697
rs1323697 		0.925 0.080 13 102845499 intron variant G/C snv 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1323697
rs1323697 		0.925 0.080 13 102845499 intron variant G/C snv 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2015 2015
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2015 2015
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2094258
rs2094258 		0.701 0.280 13 102844409 intron variant C/T snv 0.18
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4150351
rs4150351 		0.925 0.160 13 102870617 intron variant A/C;T snv
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4150351
rs4150351 		0.925 0.160 13 102870617 intron variant A/C;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs4771436
rs4771436 		1.000 0.120 13 102849670 intron variant T/G snv 0.22
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014