Source: ALL

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: rs6464149
rs6464149
BRAF ; LOC105375536
1.000 0.080 7 140926036 upstream gene variant A/C snv 0.12
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs7810757
rs7810757
BRAF ; LOC105375536
1.000 0.080 7 140925302 upstream gene variant T/C snv 0.15
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1225976306
rs1225976306
BRAF ; LOC105375536
0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2011 2016
dbSNP: rs1225976306
rs1225976306
BRAF ; LOC105375536
0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2016 2016
dbSNP: rs1225976306
rs1225976306
BRAF ; LOC105375536
0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.010 1.000 1 2015 2015
dbSNP: rs1225976306
rs1225976306
BRAF ; LOC105375536
0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		0.010 1.000 1 2013 2013
dbSNP: rs1225976306
rs1225976306
BRAF ; LOC105375536
0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		0.010 1.000 1 2015 2015
dbSNP: rs1225976306
rs1225976306
BRAF ; LOC105375536
0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs1225976306
rs1225976306
BRAF ; LOC105375536
0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs1225976306
rs1225976306
BRAF ; LOC105375536
0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs11762469
rs11762469
BRAF
1.000 0.080 7 140914412 intron variant A/G;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs11762469
rs11762469
BRAF
1.000 0.080 7 140914412 intron variant A/G;T snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 < 0.001 1 2016 2016
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: rs114729114
rs114729114
BRAF
0.925 0.080 7 140910797 intron variant C/T snv 1.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs114729114
rs114729114
BRAF
0.925 0.080 7 140910797 intron variant C/T snv 1.1E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs114729114
rs114729114
BRAF
0.925 0.080 7 140910797 intron variant C/T snv 1.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs17161747
rs17161747
BRAF
1.000 0.080 7 140858940 intron variant G/C snv 5.5E-02
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs17623204
rs17623204
BRAF
1.000 0.080 7 140806604 intron variant T/A snv 5.5E-02
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 < 0.001 1 2016 2016
dbSNP: rs387906661
rs387906661
BRAF
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.800 1.000 5 2006 2009
dbSNP: rs387906661
rs387906661
BRAF
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3 		0.800 1.000 1 2009 2009
dbSNP: rs387906661
rs387906661
BRAF
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs387906661
rs387906661
BRAF
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		0.700 0
dbSNP: rs387906661
rs387906661
BRAF
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 0
dbSNP: rs387906661
rs387906661
BRAF
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 0
dbSNP: rs387906660
rs387906660
BRAF
0.790 0.280 7 140801550 missense variant G/A;C;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1968 2013