Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760703505
rs760703505
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.710 GeneticVariation BEFREE A heterozygous novel germline nonsense mutation (p.Arg1534*) in exon 35 of the NF1 gene was detected from peripheral leukocytes, which results in a truncated protein lacking the critical domain for GTPase activity, strongly suggesting its causal role in NF1. 31189769

2019