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 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2014 2015
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2010 2014
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2014 2015
Siderosis
CUI: C0037061
Disease: Siderosis
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 1998 2010
Sporadic porphyria cutanea tarda
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
3 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 0.667 3 2000 2005
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2005 2006
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
116 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2007 2010
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
154 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2005 2006
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
20 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 1999 2001
alpha 1-Antitrypsin Deficiency
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
48 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2010 2017
Arthropathy
CUI: C0022408
Disease: Arthropathy
10 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2006 2008
beta Thalassemia, heterozygous
CUI: C0878520
Disease: beta Thalassemia, heterozygous
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2001 2005
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
220 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 2 2011 2011
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2002 2007
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.720 1.000 2 2003 2010
Degenerative polyarthritis
CUI: C0029408
Disease: Degenerative polyarthritis
247 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2006 2007
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
64 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2003 2006
Generalized osteoarthritis
CUI: C1384584
Disease: Generalized osteoarthritis
10 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2006 2006
Hemoglobin measurement
CUI: C0518015
Disease: Hemoglobin measurement
224 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 1.000 2 2009 2016
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
519 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2004 2005
Hepatitis, Chronic
CUI: C0019189
Disease: Hepatitis, Chronic
10 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2003 2009
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
81 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2002 2006
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2001 2005
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 0.500 2 2006 2012
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2006 2010