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: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.100 1.000 12 2008 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.750 1.000 12 2002 2015
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		0.100 1.000 12 2011 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0001430
Disease: Adenoma
Adenoma 		0.100 1.000 12 2005 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3899655
Disease: Childhood Langerhans Cell Histiocytosis
Childhood Langerhans Cell Histiocytosis 		0.100 0.909 11 2013 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary 		0.100 0.818 11 2007 2018
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis 		0.100 0.909 11 2013 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.100 1.000 10 2008 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma 		0.100 0.800 10 2011 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0019618
Disease: Histiocytosis
Histiocytosis 		0.100 1.000 10 2012 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
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		0.100 0.900 10 2012 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.100 0.800 10 2010 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 1.000 10 2006 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.090 1.000 9 2011 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.090 0.889 9 2004 2018
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp 		0.090 1.000 9 2006 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C3665593
Disease: Melanocytic nevus of skin
Melanocytic nevus of skin 		0.090 1.000 9 2006 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.770 0.875 8 2003 2017
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.080 1.000 8 2010 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.770 0.875 8 2003 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0027960
Disease: Nevus
Nevus 		0.080 0.875 8 2004 2017
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.080 1.000 8 2007 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.080 1.000 8 2011 2019
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		0.080 1.000 8 2011 2019