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: 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: 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: 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: rs180177042
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 1968 2013
dbSNP: rs180177042
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1968 2013
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 4 2006 2014
dbSNP: rs180177042
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		0.700 0
dbSNP: rs180177042
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs180177042
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs180177042
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3 		0.700 0
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: 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: rs121913365
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs121913365
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2016 2016
dbSNP: rs121913365
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs121913365
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913365
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs121913365
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913365
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913365
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs397507484
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 3 2009 2014
dbSNP: rs397507484
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 3 2009 2014
dbSNP: rs397507484
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2013 2013
dbSNP: rs397507484
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016