rs121913377, BRAF

N. diseases: 480
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.
Congenital arteriovenous malformation
CUI: C0003857
Disease: Congenital arteriovenous malformation
23 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
gliosarcoma
CUI: C0206726
Disease: gliosarcoma
5 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
Granuloma Annulare
CUI: C0085074
Disease: Granuloma Annulare
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
Pancreatic Intraductal Papillary Mucinous Neoplasm
CUI: C4511687
Disease: Pancreatic Intraductal Papillary Mucinous Neoplasm
8 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
Sialadenoma papilliferum
CUI: C3697936
Disease: Sialadenoma papilliferum
3 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
Skin Manifestations
CUI: C0037285
Disease: Skin Manifestations
5 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
93 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.956 367 2003 2019
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.979 96 2004 2019
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.875 88 2003 2019
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
103 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.986 72 2004 2019
Secondary malignant neoplasm of lymph node
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
188 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.789 57 2004 2019
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
4 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.979 48 2011 2019
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
85 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.909 44 2003 2019
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.929 42 2003 2019
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.943 35 2004 2019
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
16 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 34 2006 2019
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
12 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.970 33 2012 2019
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.938 32 2004 2019
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 29 2011 2019
Secondary malignant neoplasm of colon and/or rectum
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
68 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 28 2009 2019
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.957 23 2004 2019
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 21 2003 2019
Endocardial Cushion Defects
CUI: C0014116
Disease: Endocardial Cushion Defects
4 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 21 2012 2019
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.952 21 2004 2019