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.
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 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 2006 2006
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 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 2006 2006
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
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
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
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
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
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
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1 2007 2007
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 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 2008 2008
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 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 2008 2008
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
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 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
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
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
293 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
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 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
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
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 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
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 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 2012 2012
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 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 2012 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.050 0.800 5 2005 2013
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.030 0.667 3 2007 2013
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.030 0.667 3 2007 2013
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
615 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.030 1.000 3 2009 2013
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.030 0.667 3 2007 2013