NEIL1, nei like DNA glycosylase 1, 79661

N. diseases: 59; N. variants: 5
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: rs373356672
rs373356672 		0.925 0.080 15 75354442 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs373356672
rs373356672 		0.925 0.080 15 75354442 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4462560
rs4462560 		0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4462560
rs4462560 		0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4462560
rs4462560 		0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4462560
rs4462560 		0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4462560
rs4462560 		0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs5745906
rs5745906 		15 75349153 missense variant G/A snv 1.2E-03 7.5E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs5745906
rs5745906 		15 75349153 missense variant G/A snv 1.2E-03 7.5E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs5745908
rs5745908 		1.000 0.200 15 75349341 splice donor variant T/C snv 7.2E-03 6.9E-03
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7182283
rs7182283 		0.925 0.120 15 75351418 intron variant G/T snv 0.43
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs7182283
rs7182283 		0.925 0.120 15 75351418 intron variant G/T snv 0.43
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2008 2008