rs397507483, BRAF

N. diseases: 13
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 0.790 0.400 7 140753348 missense variant C/A;T snv 0.800 1.000 7 2006 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 1.000 4 2006 2009
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
158 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 1.000 1 2016 2016
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 0
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
7 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 0
Hyperkeratosis pilaris
CUI: C4073145
Disease: Hyperkeratosis pilaris
3 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 0
Moderate global developmental delay
CUI: C2237142
Disease: Moderate global developmental delay
21 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 0
Thick hair
CUI: C4073184
Disease: Thick hair
3 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 0
Thickened helices
CUI: C1837732
Disease: Thickened helices
3 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 0