Source: UNIPROT

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: 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: rs180177042
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 1 2006 2014
dbSNP: rs121913364
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 14 2002 2015
dbSNP: rs121913364
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 4 2006 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.900 0.975 10 2004 2020
dbSNP: rs121913375
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 5 2006 2014
dbSNP: rs121913366
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2002 2002
dbSNP: rs121913369
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		0.800 1.000 2 2009 2010
dbSNP: rs397507483
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 4 2006 2009
dbSNP: rs121913361
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs121913341
rs121913341
BRAF
0.851 0.280 7 140753350 missense variant A/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 4 2006 2012
dbSNP: rs121913341
rs121913341
BRAF
0.851 0.280 7 140753350 missense variant A/C;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs121913338
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.800 1.000 1 2003 2003
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: rs121913370
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs180177040
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 1 2006 2014
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: 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: 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: 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: rs180177036
rs180177036
BRAF
0.925 0.200 7 140778053 missense variant C/A;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 1 2006 2014
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 4 2006 2009
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.800 1.000 1 2003 2003
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0