Source: CURATED

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: rs397516890
rs397516890
BRAF
1.000 0.080 7 140781601 inframe deletion TCC/- del
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs727502902
rs727502902
BRAF
0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		0.700 0
dbSNP: rs727502902
rs727502902
BRAF
0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		0.700 0
dbSNP: rs121913340
rs121913340
BRAF
1.000 0.120 7 140753379 missense variant C/T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs397507473
rs397507473
BRAF
1.000 0.160 7 140781605 missense variant A/G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 8 2006 2009
dbSNP: rs397516893
rs397516893
BRAF
0.925 0.160 7 140778048 missense variant A/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1968 2013
dbSNP: rs397516893
rs397516893
BRAF
0.925 0.160 7 140778048 missense variant A/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 1968 2013
dbSNP: rs869025340
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 1968 2013
dbSNP: rs869025340
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 1968 2013
dbSNP: rs869025340
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 8 1968 2013
dbSNP: rs869025340
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1968 2013
dbSNP: rs180177039
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 6 2006 2008
dbSNP: rs180177039
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 1.000 5 2006 2008
dbSNP: rs397507470
rs397507470
BRAF
1.000 0.160 7 140801488 missense variant G/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 4 2006 2009
dbSNP: rs397507486
rs397507486
BRAF
1.000 0.160 7 140739813 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 4 2006 2009
dbSNP: rs869025606
rs869025606
BRAF
1.000 0.160 7 140781609 missense variant A/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 4 2006 2009
dbSNP: rs1057519718
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2002 2010
dbSNP: rs121913353
rs121913353
BRAF
0.925 0.160 7 140781612 missense variant C/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2003 2004
dbSNP: rs397507465
rs397507465
BRAF
1.000 0.160 7 140801542 missense variant T/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 2 2007 2008
dbSNP: rs121913353
rs121913353
BRAF
0.925 0.160 7 140781612 missense variant C/G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 1 2014 2014
dbSNP: rs180177037
rs180177037
BRAF
1.000 0.160 7 140778013 missense variant T/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.810 1.000 1 2008 2014
dbSNP: rs397507480
rs397507480
BRAF
1.000 0.160 7 140754233 missense variant A/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2007 2007
dbSNP: rs397516893
rs397516893
BRAF
0.925 0.160 7 140778048 missense variant A/C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 1 2007 2007
dbSNP: rs606231228
rs606231228
BRAF
0.925 0.160 7 140777013 missense variant C/A;G snv
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		0.800 1.000 1 2010 2010
dbSNP: rs180177039
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		0.700 0