rs267606706, CBL

N. diseases: 9
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.
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 1.000 1 2013 2013
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 0
Delayed speech and language development
192 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 0
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
4 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2017 2017
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2010 2010
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
10 0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 0.010 1.000 1 2017 2017