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.
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.900 0.975 160 2004 2020
melanoma
CUI: C0025202
Disease: melanoma
515 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.979 477 2002 2020
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.947 475 2003 2020
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.959 387 2003 2019
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 30 2002 2019
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
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
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
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.790 0.970 33 2002 2019
Colonic Neoplasms
CUI: C0009375
Disease: Colonic Neoplasms
45 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.770 0.875 8 2003 2017
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.770 0.875 8 2003 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
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.750 1.000 12 2002 2015
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.710 1.000 1 2011 2011
Arteriovenous Malformations, Cerebral
6 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2019 2019
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
45 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Papillary renal cell carcinoma, sporadic
30 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
348 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
ASTROCYTOMA, LOW-GRADE, SOMATIC
CUI: C2674727
Disease: ASTROCYTOMA, LOW-GRADE, SOMATIC
1 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.700 0
Nongerminomatous Germ Cell Tumor
CUI: C1266158
Disease: Nongerminomatous Germ Cell Tumor
1 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.700 0
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.990 98 2002 2020
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
145 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.980 98 2004 2019
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
42 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 91 2004 2020