Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801052
rs1801052
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 GeneticVariation BEFREE We reported a novel de novo c.6817delC deletion and rs1801052 polymorphism in NF1 gene associated with NF1 symptoms, as well as numerous polymorphisms in SPG7, SPG15, SPG39 genes responsible for benign spastic paraplegia. 31048186

2019