Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691075
rs1131691075
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1131691075
rs1131691075
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. 11431704

2001
dbSNP: rs1131691075
rs1131691075
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 CausalMutation CLINVAR Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. 11409870

2001
dbSNP: rs1131691075
rs1131691075
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 CausalMutation CLINVAR Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. 10712197

2000
dbSNP: rs1131691075
rs1131691075
NF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691075
rs1131691075
NF1
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691075
rs1131691075
NF1
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691075
rs1131691075
NF1
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		T 0.700 CausalMutation CLINVAR