Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853922
rs878853922
NF1
G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs878853922
rs878853922
NF1
G 0.700 CausalMutation CLINVAR Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing. 24789688

2014
dbSNP: rs878853922
rs878853922
NF1
G 0.700 CausalMutation CLINVAR Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). 21280148

2011
dbSNP: rs878853922
rs878853922
NF1
G 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs878853922
rs878853922
NF1
G 0.700 CausalMutation CLINVAR Two independent mutations in a family with neurofibromatosis type 1 (NF1). 10076878

1999