rs387906660, BRAF

N. diseases: 7
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 1.000 8 1968 2013
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 1.000 2 2009 2014
NOONAN SYNDROME 7
CUI: C3150970
Disease: NOONAN SYNDROME 7
8 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 1.000 1 2009 2009
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 0
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 0
LEOPARD SYNDROME 3
CUI: C3150971
Disease: LEOPARD SYNDROME 3
5 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 0