rs397517077, CBL

N. diseases: 10
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.
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 1.000 1 2010 2010
Broad thumbs
CUI: C0426891
Disease: Broad thumbs
11 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
10 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
Sacral dimple
CUI: C0426848
Disease: Sacral dimple
11 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
14 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 0