rs180177035, BRAF

N. diseases: 35
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 0.752 0.280 7 140801502 missense variant T/C snv 0.810 1.000 20 2006 2018
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 10 1968 2013
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 8 1968 2013
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Postnatal onset growth deficiency
CUI: C1857534
Disease: Postnatal onset growth deficiency
1 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Sparse hair
CUI: C1837770
Disease: Sparse hair
9 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
Alopecia
CUI: C0002170
Disease: Alopecia
375 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Curly hair (finding)
CUI: C0558165
Disease: Curly hair (finding)
7 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Finger joint hypermobility
CUI: C0574974
Disease: Finger joint hypermobility
2 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Flared nostrils abnormality
CUI: C4551517
Disease: Flared nostrils abnormality
1 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0