rs863224493, 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.
Axillary freckling
CUI: C1860335
Disease: Axillary freckling
12 0.925 0.120 17 31352281 stop gained G/A snv 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.925 0.120 17 31352281 stop gained G/A snv 0.700 0
Delayed speech and language development
192 0.925 0.120 17 31352281 stop gained G/A snv 0.700 0
Hernia, Inguinal
CUI: C0019294
Disease: Hernia, Inguinal
21 0.925 0.120 17 31352281 stop gained G/A snv 0.700 0
Inguinal freckling
CUI: C1834297
Disease: Inguinal freckling
7 0.925 0.120 17 31352281 stop gained G/A snv 0.700 0
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.925 0.120 17 31352281 stop gained G/A snv 0.700 0
Specific learning disability
CUI: C4025790
Disease: Specific learning disability
13 0.925 0.120 17 31352281 stop gained G/A snv 0.700 0