UNG, uracil DNA glycosylase, 7374

N. diseases: 56; N. variants: 6
Source: BEFREE ×
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: rs2337395
rs2337395 		1.000 0.040 12 109096844 upstream gene variant T/C snv 0.55
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2012 2014
dbSNP: rs246079
rs246079 		0.790 0.120 12 109109255 intron variant A/G;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs246079
rs246079 		0.790 0.120 12 109109255 intron variant A/G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs246079
rs246079 		0.790 0.120 12 109109255 intron variant A/G;T snv
CUI: C0851140
Disease: Carcinoma in situ of uterine cervix
Carcinoma in situ of uterine cervix 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs246079
rs246079 		0.790 0.120 12 109109255 intron variant A/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs246079
rs246079 		0.790 0.120 12 109109255 intron variant A/G;T snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs246079
rs246079 		0.790 0.120 12 109109255 intron variant A/G;T snv
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs246079
rs246079 		0.790 0.120 12 109109255 intron variant A/G;T snv
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs246079
rs246079 		0.790 0.120 12 109109255 intron variant A/G;T snv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs246079
rs246079 		0.790 0.120 12 109109255 intron variant A/G;T snv
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs2569987
rs2569987 		1.000 0.080 12 109103366 intron variant T/C snv 0.12
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3219218
rs3219218 		0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3219218
rs3219218 		0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs3219218
rs3219218 		0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs3219218
rs3219218 		0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02
CUI: C0851140
Disease: Carcinoma in situ of uterine cervix
Carcinoma in situ of uterine cervix 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs3890995
rs3890995 		1.000 0.080 12 109095724 upstream gene variant T/C snv 0.19
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs80001089
rs80001089 		1.000 0.080 12 109099757 intron variant T/G snv 5.8E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019