Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786202112
rs786202112
NF1
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses
0.010 GeneticVariation BEFREE Neurofibromatosis in this patient was transmitted by the boy's farther who carried the mutation NF1 c. 5546 G/A. 16961930

2006