rs387906661, BRAF

N. diseases: 6
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 0.807 0.280 7 140801551 missense variant T/G snv 0.800 1.000 3 2006 2009
LEOPARD SYNDROME 3
CUI: C3150971
Disease: LEOPARD SYNDROME 3
5 0.807 0.280 7 140801551 missense variant T/G snv 0.800 1.000 0 2009 2009
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
28 0.807 0.280 7 140801551 missense variant T/G snv 0.700 0
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
17 0.807 0.280 7 140801551 missense variant T/G snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
73 0.807 0.280 7 140801551 missense variant T/G snv 0.700 0
NOONAN SYNDROME 7
CUI: C3150970
Disease: NOONAN SYNDROME 7
8 0.807 0.280 7 140801551 missense variant T/G snv 0.700 0