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.
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 14 2014 2019
Papillary Thyroid Microcarcinoma
CUI: C1709457
Disease: Papillary Thyroid Microcarcinoma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.929 14 2005 2020
Erdheim-Chester Disease
CUI: C0878675
Disease: Erdheim-Chester Disease
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 13 2012 2019
Adult Langerhans Cell Histiocytosis
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.917 12 2013 2019
Childhood Langerhans Cell Histiocytosis
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.917 12 2013 2019
Metanephric adenoma
CUI: C1266045
Disease: Metanephric adenoma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.060 1.000 6 2012 2019
Anaplastic Pleomorphic Xanthoastrocytoma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2018 2019
Histiocytic syndrome
CUI: C0398597
Disease: Histiocytic syndrome
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2012 2019
Malignant melanoma of conjunctiva
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2011 2019
Stage IV Thyroid Gland Papillary Carcinoma AJCC v7
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.040 1.000 4 2013 2016
Desmoplastic infantile astrocytoma
CUI: C0457179
Disease: Desmoplastic infantile astrocytoma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 0.667 3 2014 2018
Dysembryoplastic neuroepithelial tumor
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 0.667 3 2013 2016
Pulmonary Histiocytosis X
CUI: C1455705
Disease: Pulmonary Histiocytosis X
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2014 2017
Traditional Serrated Adenoma
CUI: C1266025
Disease: Traditional Serrated Adenoma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2011 2019
Acral Lentiginous Malignant Melanoma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2015 2015
Astrocytoma, low grade
CUI: C1314694
Disease: Astrocytoma, low grade
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2016 2017
Childhood Pilomyxoid Astrocytoma
CUI: C3899646
Disease: Childhood Pilomyxoid Astrocytoma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2014 2016
Clear Cell Sarcoma of Soft Tissue
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2005 2012
Hairy cell leukemia variant
CUI: C0349633
Disease: Hairy cell leukemia variant
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2012 2013
Histiocytic and Dendritic Cell Neoplasm
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2014 2015
Histiocytosis, Non-Langerhans-Cell
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2015 2016
Juvenile Xanthogranuloma
CUI: C0043324
Disease: Juvenile Xanthogranuloma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2017 2019
keratoacanthoma
CUI: C0022572
Disease: keratoacanthoma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2012 2014
Lipogranuloma
CUI: C1704214
Disease: Lipogranuloma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2016 2019
Lymphocytic infiltration
CUI: C1262091
Disease: Lymphocytic infiltration
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2013 2014