rs121913378, BRAF

N. diseases: 11
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.
melanoma
CUI: C0025202
Disease: melanoma
515 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.710 1.000 15 2002 2014
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 1.000 2 2004 2005
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 0
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 0
Long face
CUI: C1836047
Disease: Long face
12 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.020 1.000 2 2007 2012
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
Low grade serous carcinoma
CUI: C3839184
Disease: Low grade serous carcinoma
3 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
Malignant melanoma, metastatic
CUI: C0860594
Disease: Malignant melanoma, metastatic
5 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
42 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015