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: rs3748093
rs3748093
BRAF
0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.020 1.000 2 2013 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: 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: 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: 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: 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: 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: rs35407685
rs35407685
BRAF
1.000 0.080 7 140786444 intron variant -/G delins
CUI: C2076600
Disease: Influenza due to Influenza A virus subtype H1N1
Influenza due to Influenza A virus subtype H1N1 		0.700 1.000 1 2015 2015
dbSNP: rs3748093
rs3748093
BRAF
0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs3748093
rs3748093
BRAF
0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2013 2013
dbSNP: rs3748093
rs3748093
BRAF
0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2013 2013
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: rs121913357
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.710 1.000 2 2002 2015
dbSNP: rs121913357
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913357
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.800 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016