rs397507476, BRAF

N. diseases: 4
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.
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.882 0.200 7 140778011 missense variant T/A;G snv 0.700 1.000 4 2006 2009
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.200 7 140778011 missense variant T/A;G snv 0.700 1.000 3 2006 2009
leukemia
CUI: C0023418
Disease: leukemia
144 0.882 0.200 7 140778011 missense variant T/A;G snv 0.700 1.000 3 2006 2009
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.200 7 140778011 missense variant T/A;G snv 0.700 1.000 3 2006 2009