Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691073
rs1131691073
NF1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A highly sensitive genetic protocol to detect NF1 mutations. 21354044

2011
dbSNP: rs1131691073
rs1131691073
NF1
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
NEUROFIBROMATOSIS, FAMILIAL SPINAL 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691073
rs1131691073
NF1
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691073
rs1131691073
NF1
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait macules with pulmonary stenosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691073
rs1131691073
NF1
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691073
rs1131691073
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		T 0.700 CausalMutation CLINVAR