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.
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
19 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.830 1.000 9 2006 2017
Nevus sebaceous
CUI: C3854181
Disease: Nevus sebaceous
9 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.710 1.000 2 2012 2018
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
35 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 5 2007 2015
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
228 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
419 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
103 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2015 2015
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
228 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
149 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
223 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
784 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
72 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
10 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2006 2006
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
303 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
215 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Transitional cell carcinoma of bladder
147 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
121 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Squamous cell carcinoma of the head and neck
288 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
226 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
428 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
203 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
12 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 0
Organoid Nevus Phakomatosis
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
4 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.010 1.000 1 2012 2012
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
129 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.010 1.000 1 2012 2012
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
181 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.010 1.000 1 2017 2017
Trichoepithelioma
CUI: C0349658
Disease: Trichoepithelioma
3 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.010 1.000 1 2018 2018