rs121913375, BRAF

N. diseases: 7
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 0.240 7 140753339 missense variant G/A;C snv 0.800 1.000 5 2006 2014
melanoma
CUI: C0025202
Disease: melanoma
515 0.851 0.240 7 140753339 missense variant G/A;C snv 0.710 1.000 2 2014 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.851 0.240 7 140753339 missense variant G/A;C snv 0.700 1.000 1 2004 2004
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.851 0.240 7 140753339 missense variant G/A;C snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.851 0.240 7 140753339 missense variant G/A;C snv 0.700 0
Mixed follicular and papillary thyroid carcinoma
CUI: C0346398
Disease: Mixed follicular and papillary thyroid carcinoma
8 0.851 0.240 7 140753339 missense variant G/A;C snv 0.010 1.000 1 2008 2008
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.851 0.240 7 140753339 missense variant G/A;C snv 0.010 1.000 1 2016 2016