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.
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
CUI: C1856170
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO
3 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
HEMOCHROMATOSIS, JUVENILE, DIGENIC
CUI: C3150862
Disease: HEMOCHROMATOSIS, JUVENILE, DIGENIC
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
CUI: C2673520
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
CUI: C2673517
Disease: PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
CUI: C2673518
Disease: PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
1 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
CUI: C3280096
Disease: TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
2 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 0
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2007 2007
Barrett Esophagus
CUI: C0004763
Disease: Barrett Esophagus
60 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2008 2008
Calcium pyrophosphate deposition disease
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2007 2007
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2017 2017
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
197 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2006 2006
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2007 2007
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
37 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2003 2003
Pseudogout
CUI: C0033802
Disease: Pseudogout
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2007 2007
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2004 2004
Sideroblastic anemia
CUI: C0002896
Disease: Sideroblastic anemia
11 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 1999 1999
Tooth Attrition
CUI: C0004277
Disease: Tooth Attrition
5 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1 2003 2003
Anemia
CUI: C0002871
Disease: Anemia
94 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 1999 2007
Arthralgia
CUI: C0003862
Disease: Arthralgia
27 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 2002 2007
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 1998 2001
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 2006 2015
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
46 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 1999 1999
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 2006 2012
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.070 0.571 7 2002 2016