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: rs760703505
rs760703505
NF1
0.882 0.200 17 31261733 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.710 1.000 1 1997 2019