Source: BEFREE

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: rs775040765
rs775040765
BRAF
1.000 7 140800366 missense variant T/C snv 8.0E-05 1.4E-05
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2018 2018
dbSNP: rs775040765
rs775040765
BRAF
1.000 7 140800366 missense variant T/C snv 8.0E-05 1.4E-05
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2018 2018
dbSNP: rs867748453
rs867748453
BRAF
7 140781608 missense variant G/A snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2015 2015
dbSNP: rs121913368
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.020 1.000 2 2012 2018
dbSNP: rs121913368
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2002 2018
dbSNP: rs121913371
rs121913371
BRAF
1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0018932
Disease: Hematochezia
Hematochezia 		0.010 1.000 1 2004 2004
dbSNP: rs121913371
rs121913371
BRAF
1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0009806
Disease: Constipation
Constipation 		0.010 1.000 1 2004 2004
dbSNP: rs1639679
rs1639679
BRAF
1.000 0.040 7 140778454 intron variant G/T snv 9.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2005 2005
dbSNP: rs397507482
rs397507482
BRAF
0.882 0.040 7 140753386 missense variant A/C snv
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.010 1.000 1 2019 2019
dbSNP: rs397507482
rs397507482
BRAF
0.882 0.040 7 140753386 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs397507482
rs397507482
BRAF
0.882 0.040 7 140753386 missense variant A/C snv
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.010 1.000 1 2019 2019
dbSNP: rs1057519719
rs1057519719
BRAF
1.000 0.080 7 140781593 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs1057519720
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2013 2013
dbSNP: rs1057519720
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C4744444
Disease: Metastatic Lung Adenocarcinoma
Metastatic Lung Adenocarcinoma 		0.010 1.000 1 2013 2013
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: 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: 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: rs121913376
rs121913376
BRAF
0.925 0.080 7 140781597 missense variant C/A;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 1.000 1 2007 2007
dbSNP: rs1238788540
rs1238788540
BRAF
0.925 0.080 7 140800368 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 < 0.001 1 2009 2009
dbSNP: rs1238788540
rs1238788540
BRAF
0.925 0.080 7 140800368 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 < 0.001 1 2009 2009
dbSNP: rs1267636
rs1267636
BRAF
1.000 0.080 7 140792239 intron variant T/C snv 0.11
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 < 0.001 1 2016 2016
dbSNP: rs1370423184
rs1370423184
BRAF
1.000 0.080 7 140778018 missense variant G/C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		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