rs113488022, BRAF

N. diseases: 490
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.
Juvenile Xanthogranuloma
CUI: C0043324
Disease: Juvenile Xanthogranuloma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2017 2019
keratoacanthoma
CUI: C0022572
Disease: keratoacanthoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2012 2014
Lipogranuloma
CUI: C1704214
Disease: Lipogranuloma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2016 2019
Lymphocytic infiltration
CUI: C1262091
Disease: Lymphocytic infiltration
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2013 2014
Medullary carcinoma
CUI: C0206693
Disease: Medullary carcinoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2014 2016
Odontogenic Tumors
CUI: C0028880
Disease: Odontogenic Tumors
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2014 2017
Pilomyxoid astrocytoma
CUI: C1519086
Disease: Pilomyxoid astrocytoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 0.500 2 2014 2016
Poorly Differentiated Thyroid Carcinoma
CUI: C1266050
Disease: Poorly Differentiated Thyroid Carcinoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2009 2018
Rathke Cleft Cysts
CUI: C0752244
Disease: Rathke Cleft Cysts
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2015 2018
recurrent papillary thyroid cancer
CUI: C4733538
Disease: recurrent papillary thyroid cancer
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2011 2020
Reticulohistiocytic granuloma
CUI: C0035290
Disease: Reticulohistiocytic granuloma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2019 2019
Serous cystadenoma, borderline malignancy
CUI: C0334355
Disease: Serous cystadenoma, borderline malignancy
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2007 2018
Stage III Cutaneous Melanoma AJCC v6
CUI: C0278882
Disease: Stage III Cutaneous Melanoma AJCC v6
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 0.500 2 2017 2019
Adenoma, Villous
CUI: C0206674
Disease: Adenoma, Villous
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2008 2008
Adult Anaplastic Large Cell Lymphoma
CUI: C1332182
Disease: Adult Anaplastic Large Cell Lymphoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
Adult Diffuse Astrocytoma
CUI: C1332200
Disease: Adult Diffuse Astrocytoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
Adult Malignant Peripheral Nerve Sheath Tumor
CUI: C0278622
Disease: Adult Malignant Peripheral Nerve Sheath Tumor
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
Anaplastic ganglioglioma
CUI: C0431112
Disease: Anaplastic ganglioglioma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
Atypical carcinoid tumor
CUI: C1266032
Disease: Atypical carcinoid tumor
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
Benign neurologic neoplasms
CUI: C0497550
Disease: Benign neurologic neoplasms
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
Bile duct adenoma
CUI: C0008309
Disease: Bile duct adenoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Carcinoid tumor, malignant
CUI: C0391970
Disease: Carcinoid tumor, malignant
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2004 2004
Carcinoma ex pleomorphic adenoma
CUI: C0344460
Disease: Carcinoma ex pleomorphic adenoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
Childhood Anaplastic Large Cell Lymphoma
CUI: C1332942
Disease: Childhood Anaplastic Large Cell Lymphoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
Childhood Diffuse Astrocytoma
CUI: C3899668
Disease: Childhood Diffuse Astrocytoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016