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.
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.030 1.000 3 2009 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.030 1.000 3 2011 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.030 1.000 3 2011 2015
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
154 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2009 2012
Childhood Acute Lymphoblastic Leukemia
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
261 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2009 2012
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2013 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2014 2015
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2013 2013
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
197 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2004 2004
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
Neutropenia
CUI: C0027947
Disease: Neutropenia
97 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
193 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2004 2004
Turner Syndrome
CUI: C0041408
Disease: Turner Syndrome
21 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1 2015 2015