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.
Familial porphyria cutanea tarda
CUI: C0268323
Disease: Familial porphyria cutanea tarda
6 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 0
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 0
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
2 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 0
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2007 2007
Anemia
CUI: C0002871
Disease: Anemia
94 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2005 2005
Arthritis
CUI: C0003864
Disease: Arthritis
69 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2006 2006
Barrett Esophagus
CUI: C0004763
Disease: Barrett Esophagus
60 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2008 2008
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2017 2017
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
615 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2013 2013
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
31 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2016 2016
Malignant Testicular Germ Cell Tumor
62 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2016 2016
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2007 2007
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
37 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2003 2003
Sideroblastic anemia
CUI: C0002896
Disease: Sideroblastic anemia
11 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 1999 1999
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1 2013 2013
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 0.400 5 2006 2016
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
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.636 11 2007 2016
Amyotrophic Lateral Sclerosis, Sporadic
90 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 0.667 3 2011 2014
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
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
222 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 0.800 5 2005 2016
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.818 11 1999 2011
Diabetes Mellitus, Non-Insulin-Dependent
2672 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.833 12 2001 2016
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.060 0.833 6 2006 2012
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.070 0.857 7 2000 2018