rs1057518974, NF1

N. diseases: 3
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 1.000 0.080 17 31334837 splice acceptor variant G/A snv 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 1.000 0.080 17 31334837 splice acceptor variant G/A snv 0.700 0
Plexiform Neurofibroma
CUI: C0206728
Disease: Plexiform Neurofibroma
5 1.000 0.080 17 31334837 splice acceptor variant G/A snv 0.700 0