NF1, neurofibromin 1, 4763

N. diseases: 77; N. variants: 931
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786202112
rs786202112
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C2931482
Disease:
Neurofibromatosis-Noonan syndrome
A 0.700 CausalMutation CLINVAR