rs397507481, 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 0.240 7 140754206 missense variant G/C;T snv 0.700 0
Hypercalcemia
CUI: C0020437
Disease: Hypercalcemia
9 0.882 0.240 7 140754206 missense variant G/C;T snv 0.700 0
Macrostomia
CUI: C0024433
Disease: Macrostomia
11 0.882 0.240 7 140754206 missense variant G/C;T snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.882 0.240 7 140754206 missense variant G/C;T snv 0.700 0