rs137854550, NF1

N. diseases: 10
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 0.790 0.360 17 31258500 missense variant A/C;G snv 0.800 1.000 34 1990 2016
Neurofibromatosis-Noonan syndrome
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
25 0.790 0.360 17 31258500 missense variant A/C;G snv 0.800 1.000 3 2003 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 1.000 2 2017 2018
Axillary freckling
CUI: C1860335
Disease: Axillary freckling
12 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
Cafe au lait spots, multiple
CUI: C1861975
Disease: Cafe au lait spots, multiple
13 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
Cafe-au-lait macules with pulmonary stenosis
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
18 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
Neurofibromatoses
CUI: C0162678
Disease: Neurofibromatoses
16 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
NEUROFIBROMATOSIS, FAMILIAL SPINAL
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
22 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
Optic Nerve Glioma
CUI: C0346326
Disease: Optic Nerve Glioma
9 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0