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.
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
7 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.926 27 2011 2020
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 26 2003 2020
Childhood Pleomorphic Xanthoastrocytoma
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
7 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.958 24 2011 2020
Pleomorphic Xanthoastrocytoma
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
8 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.958 24 2011 2020
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 23 2003 2019
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.957 23 2004 2019
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.955 22 2004 2019
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 21 2011 2019
Endocardial Cushion Defects
CUI: C0014116
Disease: Endocardial Cushion Defects
4 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 21 2012 2019
Split hand foot deformity 1
CUI: C2931019
Disease: Split hand foot deformity 1
8 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 21 2012 2019
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
168 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 20 2006 2019
Pilocytic Astrocytoma
CUI: C0334583
Disease: Pilocytic Astrocytoma
14 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.842 19 2011 2020
Glioma
CUI: C0017638
Disease: Glioma
353 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 18 2011 2020
Advanced Melanoma
CUI: C4727838
Disease: Advanced Melanoma
5 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 17 2012 2019
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.750 1.000 16 2002 2018
Papillary Thyroid Microcarcinoma
CUI: C1709457
Disease: Papillary Thyroid Microcarcinoma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.938 16 2005 2020
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
154 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 15 2002 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 15 2011 2019
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 14 2008 2019
Epithelioid glioblastoma
CUI: C4289580
Disease: Epithelioid glioblastoma
3 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.929 14 2014 2019
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.929 14 2008 2019
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 14 2014 2019
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
72 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.857 14 2010 2019
Ameloblastoma
CUI: C0002448
Disease: Ameloblastoma
4 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 13 2014 2019
Erdheim-Chester Disease
CUI: C0878675
Disease: Erdheim-Chester Disease
2 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 13 2012 2019