Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1266158
Disease: Nongerminomatous Germ Cell Tumor
Nongerminomatous Germ Cell Tumor 		0.700 0
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C2674727
Disease: ASTROCYTOMA, LOW-GRADE, SOMATIC
ASTROCYTOMA, LOW-GRADE, SOMATIC 		0.700 0
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.710 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		0.700 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		0.700 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0346990
Disease: Carcinomatosis of peritoneal cavity
Carcinomatosis of peritoneal cavity 		0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		0.010 < 0.001 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0006625
Disease: Cachexia
Cachexia 		0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0206709
Disease: Cystadenoma, Serous
Cystadenoma, Serous 		0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C4511687
Disease: Pancreatic Intraductal Papillary Mucinous Neoplasm
Pancreatic Intraductal Papillary Mucinous Neoplasm 		0.010 1.000 1 2020 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C4688319
Disease: Refractory Melanoma
Refractory Melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus 		0.010 1.000 1 2011 2011
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0016045
Disease: fibroma
fibroma 		0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0456889
Disease: Enteropathy-Associated T-Cell Lymphoma
Enteropathy-Associated T-Cell Lymphoma 		0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1569637
Disease: Adenocarcinoma, Endometrioid
Adenocarcinoma, Endometrioid 		0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3282896
Disease: Glandular papilloma
Glandular papilloma 		0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0346976
Disease: Secondary malignant neoplasm of pancreas
Secondary malignant neoplasm of pancreas 		0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C2986561
Disease: Spindle Cell Oncocytoma of the Adenohypophysis
Spindle Cell Oncocytoma of the Adenohypophysis 		0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2011 2011