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.
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
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
432 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
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
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
80 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
12 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
553 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
635 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
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
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
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
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 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
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
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
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
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.730 0.800 5 2004 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 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
609 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 7 2002 2016
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
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 3 2012 2016