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.
Actinic cheilitis
CUI: C0267026
Disease: Actinic cheilitis
8 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1 2015 2015
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1 2007 2007
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1 2010 2010
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
67 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1 2003 2003
Merkel cell carcinoma
CUI: C0007129
Disease: Merkel cell carcinoma
10 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1 2006 2006
MOHR-TRANEBJAERG SYNDROME
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
19 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1 2014 2014
Squamous cell carcinoma of lip
CUI: C0280302
Disease: Squamous cell carcinoma of lip
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1 2015 2015
Tuberous Sclerosis
CUI: C0041341
Disease: Tuberous Sclerosis
55 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1 2017 2017
Biliary Tract Cancer
CUI: C0750952
Disease: Biliary Tract Cancer
11 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2004 2014
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
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2003 2015
Neurilemmoma
CUI: C0027809
Disease: Neurilemmoma
11 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2013 2015
Neurofibromatoses
CUI: C0162678
Disease: Neurofibromatoses
16 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2013 2015
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2011 2013
Pilomyxoid astrocytoma
CUI: C1519086
Disease: Pilomyxoid astrocytoma
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2014 2016
Stage III Cutaneous Melanoma AJCC v6
2 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2017 2019
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
Follicular Variant Thyroid Gland Papillary Carcinoma
13 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 0.667 3 2006 2018
Malignant Peripheral Nerve Sheath Tumor
19 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 0.667 3 2013 2014
Rectal Carcinoma
CUI: C0007113
Disease: Rectal Carcinoma
112 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 0.667 3 2015 2015
Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
5 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 0.667 3 2018 2019
Splenic Marginal Zone B-Cell Lymphoma
4 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.040 0.750 4 2012 2017
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
Adult Pilocytic Astrocytoma
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
10 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.800 10 2011 2020