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.
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.810 1.000 4 2007 2013
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
12 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.800 3 2007 2013
melanoma
CUI: C0025202
Disease: melanoma
389 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.740 0.750 11 1989 2014
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
215 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.730 1.000 12 1988 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
203 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.710 2 2013 2016
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
36 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.710 1.000 1 2011 2011
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
226 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 9 2006 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
129 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 5 2004 2013
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
362 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 3 2003 2013
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
53 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
223 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
784 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
149 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 1 2016 2016
Nevus, Keratinocytic, Nonepidermolytic
6 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 0
Woolly hair nevus
CUI: C0343114
Disease: Woolly hair nevus
6 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 0
Nevus sebaceous
CUI: C3854181
Disease: Nevus sebaceous
9 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.700 0
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
22 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.020 1.000 2 2011 2013
leukemia
CUI: C0023418
Disease: leukemia
76 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.020 1.000 2 2011 2015
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
159 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.020 1.000 2 2015 2016
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2007 2007
Developmental Disabilities
CUI: C0008073
Disease: Developmental Disabilities
7 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2011 2011
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
135 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2009 2009
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
71 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 1997 1997
Malignant histiocytosis
CUI: C0019623
Disease: Malignant histiocytosis
1 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2013 2013
Precursor B-cell lymphoblastic leukemia
18 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2014 2014