Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555535032
rs1555535032
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		C 0.700 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014
dbSNP: rs1555535032
rs1555535032
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		C 0.700 CausalMutation CLINVAR Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. 24357598

2014
dbSNP: rs1555535032
rs1555535032
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		C 0.700 CausalMutation CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897

2006
dbSNP: rs1555535032
rs1555535032
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		C 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