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: rs137854561
rs137854561
NF1
0.925 0.120 17 31336750 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 1.000 1 2001 2001