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.
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
129 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.810 1.000 8 2001 2013
Turner Syndrome, Male
CUI: C0041409
Disease: Turner Syndrome, Male
64 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.810 1.000 5 2001 2015
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
37 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.800 2 2003 2015
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
32 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.700 11 2003 2016
Multiple pterygium syndrome
CUI: C0265261
Disease: Multiple pterygium syndrome
47 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.700 3 2001 2003
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
163 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.700 1 2016 2016
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
228 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.700 1 2016 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
215 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.700 1 2016 2016
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
36 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.700 1 2003 2003
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
20 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.700 1 2015 2015
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
288 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.700 1 2016 2016