Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518326
rs1057518326
NF1
C 0.700 GeneticVariation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1057518326
rs1057518326
NF1
C 0.700 GeneticVariation CLINVAR Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 10712197

2000
dbSNP: rs1057518326
rs1057518326
NF1
A 0.700 GeneticVariation CLINVAR