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: C0027947
Disease: Neutropenia
Neutropenia 		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: 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: C1708604
Disease: Keratocystic Odontogenic Tumor
Keratocystic Odontogenic Tumor 		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: C0334576
Disease: Gliomatosis cerebri
Gliomatosis cerebri 		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: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.010 1.000 1 2009 2009
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3272809
Disease: Colorectal Serrated Adenocarcinoma
Colorectal Serrated Adenocarcinoma 		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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027830
Disease: neurofibroma
neurofibroma 		0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3501844
Disease: Familial Nonmedullary Thyroid Cancer
Familial Nonmedullary Thyroid Cancer 		0.010 1.000 1 2005 2005
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: C0024814
Disease: Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome 		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: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		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: C1510502
Disease: Oxyphilic Adenoma
Oxyphilic Adenoma 		0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3163622
Disease: Papillary Meningioma
Papillary Meningioma 		0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1301034
Disease: Pancreatic intraepithelial neoplasia
Pancreatic intraepithelial neoplasia 		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: 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: C4684942
Disease: Refractory Thyroid Gland Carcinoma
Refractory Thyroid Gland Carcinoma 		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: 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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		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: C0279987
Disease: Childhood Malignant Peripheral Nerve Sheath Tumor
Childhood Malignant Peripheral Nerve Sheath Tumor 		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: C0008309
Disease: Bile duct adenoma
Bile duct adenoma 		0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0040147
Disease: Thyroiditis
Thyroiditis 		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: C3899676
Disease: Childhood Anaplastic Oligoastrocytoma
Childhood Anaplastic Oligoastrocytoma 		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: C2985219
Disease: Papillary tumor of the pineal region
Papillary tumor of the pineal region 		0.010 1.000 1 2015 2015