Source: CLINVAR

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: rs121913335
rs121913335
BRAF
7 140753375 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913336
rs121913336
BRAF
7 140753374 missense variant G/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913362
rs121913362
BRAF
7 140753359 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1325951163
rs1325951163
BRAF
1.000 7 140801517 missense variant C/G;T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1562957000
rs1562957000
BRAF
1.000 7 140781621 missense variant T/C snv
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		0.700 0
dbSNP: rs121913368
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 12 2002 2018
dbSNP: rs121913363
rs121913363
BRAF
1.000 0.040 7 140753361 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2014 2015
dbSNP: rs121913371
rs121913371
BRAF
1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2007 2014
dbSNP: rs121913225
rs121913225
BRAF
1.000 0.040 7 140753351 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913226
rs121913226
BRAF
1.000 0.040 7 140753332 inframe deletion TTT/- del
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913372
rs121913372
BRAF
1.000 0.040 7 140753321 missense variant CT/AA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913373
rs121913373
BRAF
1.000 0.040 7 140753321 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs1057519720
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 9 2002 2013
dbSNP: rs1057519719
rs1057519719
BRAF
1.000 0.080 7 140781593 missense variant T/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 8 2002 2013
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: rs1057519720
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2005 2014
dbSNP: rs121913376
rs121913376
BRAF
0.925 0.080 7 140781597 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs397516897
rs397516897
BRAF
1.000 0.080 7 140753334 inframe deletion TCA/- del
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2002 2002
dbSNP: rs1131692058
rs1131692058
BRAF
1.000 0.080 7 140734769 splice acceptor variant TCTACA/- delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs180177032
rs180177032
BRAF
1.000 0.080 7 140781623 missense variant C/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 0 2006 2015
dbSNP: rs180177033
rs180177033
BRAF
1.000 0.080 7 140781620 missense variant A/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 0 2006 2015
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: C0206716
Disease: Ganglioglioma
Ganglioglioma 		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