rs180177034, BRAF

N. diseases: 3
Source: CLINVAR ×
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
70 0.882 0.200 7 140801536 missense variant C/G snv 0.810 1.000 5 2006 2014
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
153 0.882 0.200 7 140801536 missense variant C/G snv 0.700 1.000 5 2006 2011
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
73 0.882 0.200 7 140801536 missense variant C/G snv 0.700 0