rs1130409, APEX1

N. diseases: 72
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Melanosis coli
CUI: C0221391
Disease: Melanosis coli
5 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2007 2007
Myelofibrosis due to another disorder
CUI: C0242006
Disease: Myelofibrosis due to another disorder
6 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2018 2018
Keratosis
CUI: C0022593
Disease: Keratosis
10 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2007 2007
Disorder of eye
CUI: C0015397
Disease: Disorder of eye
14 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
Hyperkeratosis
CUI: C0870082
Disease: Hyperkeratosis
19 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2007 2007
Melanosis
CUI: C0025209
Disease: Melanosis
23 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2007 2007
Fuchs Endothelial Dystrophy
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
32 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
Squamous cell carcinoma of oropharynx
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
33 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2016 2016
Malignant Childhood Neoplasm
CUI: C0278704
Disease: Malignant Childhood Neoplasm
34 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2007 2007
Skin lesion
CUI: C0037284
Disease: Skin lesion
52 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2007 2007
Malignant neoplasm of gastrointestinal tract
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
55 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.020 0.500 2 2015 2015
Osteitis Deformans
CUI: C0029401
Disease: Osteitis Deformans
58 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2018 2018
Keratoconus
CUI: C0022578
Disease: Keratoconus
83 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
Amyotrophic Lateral Sclerosis, Sporadic
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
90 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2010 2010
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
92 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2013 2013
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.020 0.500 2 2012 2014
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
118 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
118 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2018 2018
leukemia
CUI: C0023418
Disease: leukemia
144 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2018 2018
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
168 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2010 2010
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2019 2019
Malignant neoplasm of mouth
CUI: C0153381
Disease: Malignant neoplasm of mouth
184 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2019 2019
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1 2015 2015
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2011 2011