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: rs137854562
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.720 1.000 2 2000 2015