Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs768638173
rs768638173
NF1
0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.710 1.000 1 2015 2015
dbSNP: rs768638173
rs768638173
NF1
0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		0.710 1.000 1 2015 2015
dbSNP: rs768638173
rs768638173
NF1
0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.010 1.000 1 2015 2015