rs137854552, NF1

N. diseases: 7
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 0.807 0.280 17 31334927 stop gained C/T snv 0.730 1.000 9 1990 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.280 17 31334927 stop gained C/T snv 0.700 1.000 4 1990 2003
Cafe-au-lait macules with pulmonary stenosis
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
18 0.807 0.280 17 31334927 stop gained C/T snv 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.807 0.280 17 31334927 stop gained C/T snv 0.700 0
NEUROFIBROMATOSIS, FAMILIAL SPINAL
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
22 0.807 0.280 17 31334927 stop gained C/T snv 0.700 0
Neurofibromatosis-Noonan syndrome
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
25 0.807 0.280 17 31334927 stop gained C/T snv 0.700 0
Neurofibromatosis type 5
CUI: C0432360
Disease: Neurofibromatosis type 5
1 0.807 0.280 17 31334927 stop gained C/T snv 0.010 1.000 1 2005 2005