rs180177038, 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 0.851 0.200 7 140778007 missense variant C/G;T snv 0.700 1.000 4 2006 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.851 0.200 7 140778007 missense variant C/G;T snv 0.700 1.000 4 2006 2012
Asphyxia Neonatorum
CUI: C0004045
Disease: Asphyxia Neonatorum
5 0.851 0.200 7 140778007 missense variant C/G;T snv 0.700 1.000 3 2006 2009
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.200 7 140778007 missense variant C/G;T snv 0.700 1.000 3 2006 2009