Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 34 2002 2020
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.090 1.000 9 2012 2018
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.080 0.750 8 2003 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 1.000 6 2013 2017
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.060 1.000 6 2003 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2018 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2018 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.020 1.000 2 2003 2005
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.020 1.000 2 2018 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0023418
Disease: leukemia
leukemia 		0.020 1.000 2 2014 2016
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C4725093
Disease: Unresectable Melanoma
Unresectable Melanoma 		0.020 1.000 2 2014 2016
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2018 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.020 1.000 2 2005 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.010 1.000 1 2012 2012
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C2739810
Disease: Lentigo maligna melanoma
Lentigo maligna melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0278884
Disease: Melanoma recurrent
Melanoma recurrent 		0.010 1.000 1 2019 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0860594
Disease: Malignant melanoma, metastatic
Malignant melanoma, metastatic 		0.010 1.000 1 2015 2015
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C1321872
Disease: Stage IV Skin Melanoma
Stage IV Skin Melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 1.000 1 2014 2014
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2015 2015