rs199474758, NF1

N. diseases: 1
Disease: Neurofibromatosis 1 ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.800 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.800 CausalMutation CLINVAR Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 10712197 2000