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: rs137854552
rs137854552
NF1
0.807 0.280 17 31334927 stop gained C/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.730 1.000 3 1990 2008
dbSNP: rs137854552
rs137854552
NF1
0.807 0.280 17 31334927 stop gained C/T snv
CUI: C0432360
Disease: Neurofibromatosis type 5
Neurofibromatosis type 5 		0.010 1.000 1 2005 2005