Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876660696
rs876660696
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma. 25403449

2015
dbSNP: rs876660696
rs876660696
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. 24694336

2014
dbSNP: rs876660696
rs876660696
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. 22108604

2012
dbSNP: rs876660696
rs876660696
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. 22155606

2011
dbSNP: rs876660696
rs876660696
NF1
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		A 0.700 CausalMutation CLINVAR

dbSNP: rs876660696
rs876660696
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs876660696
rs876660696
NF1
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs876660696
rs876660696
NF1
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs876660696
rs876660696
NF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs876660696
rs876660696
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		A 0.700 GeneticVariation CLINVAR