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: rs397516896
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 7 2002 2010
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: rs727502902
rs727502902
BRAF
0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 6 2009 2012
dbSNP: rs727502902
rs727502902
BRAF
0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 6 2009 2012
dbSNP: rs180177034
rs180177034
BRAF
0.882 0.200 7 140801536 missense variant C/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2006 2011
dbSNP: rs180177036
rs180177036
BRAF
0.925 0.200 7 140778053 missense variant C/A;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 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: rs121913348
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 4 2003 2008
dbSNP: rs121913348
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 2003 2008
dbSNP: rs121913364
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 2007 2016
dbSNP: rs121913366
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 4 2002 2012
dbSNP: rs121913369
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 2004 2012
dbSNP: rs121913369
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 4 2004 2012
dbSNP: rs121913369
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 4 2004 2012
dbSNP: rs180177038
rs180177038
BRAF
0.851 0.200 7 140778007 missense variant C/G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 2006 2012
dbSNP: rs180177038
rs180177038
BRAF
0.851 0.200 7 140778007 missense variant C/G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 4 2006 2012
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: rs397507476
rs397507476
BRAF
0.882 0.200 7 140778011 missense variant T/A;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 4 2006 2009
dbSNP: rs397507483
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan 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: 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: rs121913337
rs121913337
BRAF
0.925 0.200 7 140753353 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2002 2014
dbSNP: rs121913348
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 3 2002 2010
dbSNP: rs121913348
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 3 2002 2014
dbSNP: rs121913351
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 3 2002 2014