NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519370
rs1057519370
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0349588
Disease:
Short stature
T 0.700 CausalMutation CLINVAR