rs121913227, BRAF

N. diseases: 31
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 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.800 1.000 54 2002 2020
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
42 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.090 1.000 9 2012 2018
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.080 0.750 8 2003 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.060 1.000 6 2013 2017
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
85 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.060 1.000 6 2003 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2018 2019
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2003 2005
leukemia
CUI: C0023418
Disease: leukemia
144 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2014 2016
Malignant neoplasm of colon and/or rectum
502 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2018 2019
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2018 2019
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2018 2019
Secondary malignant neoplasm of lymph node
188 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2005 2019
Unresectable Melanoma
CUI: C4725093
Disease: Unresectable Melanoma
3 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2014 2016
Advanced Melanoma
CUI: C4727838
Disease: Advanced Melanoma
5 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2014 2014
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
20 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2019 2019
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
140 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2014 2014
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2019 2019
Invasive Cutaneous Melanoma
CUI: C1708565
Disease: Invasive Cutaneous Melanoma
7 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2007 2007
Invasive Ductal Breast Carcinoma
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
16 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2019 2019
Lentigo maligna melanoma
CUI: C2739810
Disease: Lentigo maligna melanoma
6 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2015 2015
Malignant melanoma, metastatic
CUI: C0860594
Disease: Malignant melanoma, metastatic
5 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2015 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2019 2019
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2019 2019
Melanoma recurrent
CUI: C0278884
Disease: Melanoma recurrent
1 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2019 2019
Metastatic malignant neoplasm to brain
28 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2012 2012