Source: BEFREE

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: 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: C0280302
Disease: Squamous cell carcinoma of lip
Squamous cell carcinoma of lip 		0.010 < 0.001 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma 		0.010 < 0.001 1 2006 2006
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.010 < 0.001 1 2003 2003
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 < 0.001 1 2010 2010
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 < 0.001 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.010 < 0.001 1 2007 2007
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		0.010 < 0.001 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		0.020 0.500 2 2013 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1519086
Disease: Pilomyxoid astrocytoma
Pilomyxoid astrocytoma 		0.020 0.500 2 2014 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		0.020 0.500 2 2004 2014
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0278882
Disease: Stage III Cutaneous Melanoma AJCC v6
Stage III Cutaneous Melanoma AJCC v6 		0.020 0.500 2 2017 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.020 0.500 2 2013 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.020 0.500 2 2011 2013
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3899646
Disease: Childhood Pilomyxoid Astrocytoma
Childhood Pilomyxoid Astrocytoma 		0.020 0.500 2 2014 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.020 0.500 2 2003 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1266177
Disease: Dysembryoplastic neuroepithelial tumor
Dysembryoplastic neuroepithelial tumor 		0.030 0.667 3 2013 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0457179
Disease: Desmoplastic infantile astrocytoma
Desmoplastic infantile astrocytoma 		0.030 0.667 3 2014 2018
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3714651
Disease: Follicular Variant Thyroid Gland Papillary Carcinoma
Follicular Variant Thyroid Gland Papillary Carcinoma 		0.030 0.667 3 2006 2018
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		0.030 0.667 3 2013 2014
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C4287590
Disease: Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features 		0.030 0.667 3 2018 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		0.030 0.667 3 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0349632
Disease: Splenic Marginal Zone B-Cell Lymphoma
Splenic Marginal Zone B-Cell Lymphoma 		0.040 0.750 4 2012 2017
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.100 0.800 60 2004 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		0.100 0.800 10 2011 2020