rs180177039, 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.
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 1.000 6 2006 2008
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 1.000 5 2006 2008
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
Ventricular hypertrophy
CUI: C0340279
Disease: Ventricular hypertrophy
9 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0