Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474762
rs199474762
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs199474762
rs199474762
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.800 GeneticVariation UNIPROT The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922

2014