rs876657714, NF1

N. diseases: 4
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 0.882 0.200 17 31327535 stop gained C/T snv 0.700 1.000 11 1994 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 31327535 stop gained C/T snv 0.700 1.000 7 1994 2017
Ectropion
CUI: C0013592
Disease: Ectropion
3 0.882 0.200 17 31327535 stop gained C/T snv 0.010 1.000 1 2005 2005
Ectropion uveae
CUI: C0423325
Disease: Ectropion uveae
1 0.882 0.200 17 31327535 stop gained C/T snv 0.010 1.000 1 2005 2005