rs121913355, BRAF

N. diseases: 42
Source: ALL
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.
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
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
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
Wide nasal base
CUI: C1849667
Disease: Wide nasal base
3 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Thin lips
CUI: C0578038
Disease: Thin lips
8 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
12 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
16 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
Short nose
CUI: C1854114
Disease: Short nose
23 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
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
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Lymphoma, Non-Hodgkin, Familial
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
79 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 1 2003 2003
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 4 2006 2009
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Adenocarcinoma of prostate
CUI: C0007112
Disease: Adenocarcinoma of prostate
108 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
158 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
168 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
197 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003