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.
Long fingers
CUI: C1858091
Disease: Long fingers
6 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Long toe
CUI: C3150613
Disease: Long toe
8 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Sparse and thin eyebrow
CUI: C4282407
Disease: Sparse and thin eyebrow
8 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Sparse eyelashes
CUI: C1843300
Disease: Sparse eyelashes
4 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
Thick vermilion border
CUI: C1836543
Disease: Thick vermilion border
15 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0