Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs373356672
rs373356672
NEIL1 ; MIR631
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 		0.010 1.000 1 2015 2015
dbSNP: rs373356672
rs373356672
NEIL1 ; MIR631
0.925 0.080 15 75354442 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.010 1.000 1 2014 2014
dbSNP: rs4462560
rs4462560
MAN2C1 ; NEIL1 ; MIR631
0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs4462560
rs4462560
MAN2C1 ; NEIL1 ; MIR631
0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs4462560
rs4462560
MAN2C1 ; NEIL1 ; MIR631
0.851 0.080 15 75355623 3 prime UTR variant G/C snv 0.64
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs4462560
rs4462560
MAN2C1 ; NEIL1 ; MIR631
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 		0.010 1.000 1 2013 2013
dbSNP: rs4462560
rs4462560
MAN2C1 ; NEIL1 ; MIR631
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 		0.010 1.000 1 2013 2013