rs886041347, NF1

N. diseases: 13
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 0.320 17 31229061 stop gained C/T snv 0.710 1.000 9 1997 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.320 17 31229061 stop gained C/T snv 0.700 1.000 5 2004 2016
Axillary freckling
CUI: C1860335
Disease: Axillary freckling
12 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
Cafe au lait spots, multiple
CUI: C1861975
Disease: Cafe au lait spots, multiple
13 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
Cafe-au-lait macules with pulmonary stenosis
CUI: C0553586
Disease: Cafe-au-lait macules with pulmonary stenosis
18 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
Inguinal freckling
CUI: C1834297
Disease: Inguinal freckling
7 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
Large cafe-au-lait macules with irregular margins
CUI: C4025174
Disease: Large cafe-au-lait macules with irregular margins
1 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
Lisch nodules
CUI: C1860334
Disease: Lisch nodules
5 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
NEUROFIBROMATOSIS, FAMILIAL SPINAL
CUI: C1834235
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL
22 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
Neurofibromatosis-Noonan syndrome
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
25 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.790 0.320 17 31229061 stop gained C/T snv 0.020 1.000 2 1998 2003