rs137854556, NF1

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 0.800 1.000 37 1990 2016
Cafe-au-lait macules with pulmonary stenosis
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
18 0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 0.700 0
NEUROFIBROMATOSIS, FAMILIAL SPINAL
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
22 0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 0.700 0
Neurofibromatosis-Noonan syndrome
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
25 0.827 0.280 17 31235729 missense variant G/A;C snv 4.0E-06 0.700 0