Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772295894
rs772295894
NF1
A 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs772295894
rs772295894
NF1
G 0.700 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs772295894
rs772295894
NF1
A 0.700 CausalMutation CLINVAR Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1. 22925204

2013
dbSNP: rs772295894
rs772295894
NF1
G 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs772295894
rs772295894
NF1
G 0.700 CausalMutation CLINVAR The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors. 18503770

2008
dbSNP: rs772295894
rs772295894
NF1
A 0.700 CausalMutation CLINVAR Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption. 17311297

2007
dbSNP: rs772295894
rs772295894
NF1
A 0.700 CausalMutation CLINVAR Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene. 7607663

1995