rs768638173, NF1

N. diseases: 6
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 31226474 stop gained C/T snv 4.0E-06 1.4E-05 0.710 1.000 1 2015 2015
Optic Nerve Glioma
CUI: C0346326
Disease: Optic Nerve Glioma
9 0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 0.710 1.000 1 2015 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 0.700 1.000 8 2003 2016
Axillary freckling
CUI: C1860335
Disease: Axillary freckling
12 0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
20 0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015