rs397507478, BRAF

N. diseases: 12
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.
Abnormality of temperature regulation
3 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Congenital strabismus
CUI: C0521579
Disease: Congenital strabismus
1 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
7 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Diabetes Mellitus, Insulin-Dependent
954 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Sensorineural hearing loss, bilateral
30 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
Vertigo
CUI: C0042571
Disease: Vertigo
35 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0