Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555392609
rs1555392609
SPRED1
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		T 0.700 CausalMutation CLINVAR A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1. 22751498

2012
dbSNP: rs1555392609
rs1555392609
SPRED1
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		T 0.700 CausalMutation CLINVAR Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. 17704776

2007