Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045139
rs797045139
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.710 GeneticVariation BEFREE Our finding and revision of the literature consistently indicate that the c.5425C>T change is associated with a distinctive, mild form of NF1, providing new data with direct impact on genetic counseling and patient management. 25370043

2015