rs121913355, BRAF

N. diseases: 32
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
70 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 2 2006 2009
Lymphoma, Non-Hodgkin, Familial
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
33 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 0 2003 2003
Neoplasms
CUI: C0027651
Disease: Neoplasms
98 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.730 0.800 2 2004 2015
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
82 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.720 1.000 1 2002 2019
melanoma
CUI: C0025202
Disease: melanoma
129 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 2 2009 2014
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
28 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 8 2002 2013
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 7 2002 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
211 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 3 2012 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
96 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
153 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
76 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
135 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
54 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
141 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Abnormal involuntary eye movements
CUI: C4022855
Disease: Abnormal involuntary eye movements
2 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Absent eyebrow
CUI: C0431448
Disease: Absent eyebrow
1 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Absent eyelashes
CUI: C1843005
Disease: Absent eyelashes
1 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
49 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
47 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Dry skin
CUI: C0151908
Disease: Dry skin
11 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
468 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Increased anterioposterior diameter of thorax
CUI: C1848760
Disease: Increased anterioposterior diameter of thorax
1 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0