rs121913348, BRAF

N. diseases: 20
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.
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.800 1.000 4 2002 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.720 1.000 3 2004 2016
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 4 2003 2008
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 4 2003 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 3 2002 2014
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 3 2002 2010
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
291 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 2 2007 2014
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
7 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
Diminished sweating
CUI: C0553721
Disease: Diminished sweating
7 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
Madarosis of eyebrow
CUI: C0578682
Disease: Madarosis of eyebrow
1 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
Sparse eyebrow
CUI: C1832446
Disease: Sparse eyebrow
6 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
Hypocholesterolemia
CUI: C0151718
Disease: Hypocholesterolemia
22 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
melanoma
CUI: C0025202
Disease: melanoma
515 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016