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: rs9648716
rs9648716
BRAF
1.000 0.080 7 140912363 intron variant A/G;T snv 0.31
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 1.000 1 2017 2017
dbSNP: rs869025607
rs869025607
BRAF
1.000 0.160 7 140781598 inframe deletion GTT/- delins
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 0
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: 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: rs869025340
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 0
dbSNP: rs794729219
rs794729219
BRAF
0.882 0.240 7 140753352 missense variant A/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 2 2006 2008
dbSNP: rs794729219
rs794729219
BRAF
0.882 0.240 7 140753352 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs727504375
rs727504375
BRAF
0.925 0.200 7 140778059 missense variant T/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs727504375
rs727504375
BRAF
0.925 0.200 7 140778059 missense variant T/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 0
dbSNP: rs727502904
rs727502904
BRAF
0.925 0.200 7 140734763 missense variant G/A;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 0
dbSNP: rs727502904
rs727502904
BRAF
0.925 0.200 7 140734763 missense variant G/A;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
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: 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: 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: rs606231228
rs606231228
BRAF
0.925 0.160 7 140777013 missense variant C/A;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs397516905
rs397516905
BRAF
1.000 0.160 7 140801479 missense variant C/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs397516904
rs397516904
BRAF
0.925 0.200 7 140801487 missense variant T/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 2 2007 2008
dbSNP: rs397516904
rs397516904
BRAF
0.925 0.200 7 140801487 missense variant T/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs397516903
rs397516903
BRAF
0.925 0.200 7 140801533 missense variant A/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 0
dbSNP: rs397516903
rs397516903
BRAF
0.925 0.200 7 140801533 missense variant A/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0