Source: CURATED

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: rs1060500268
rs1060500268
NF1
1.000 0.120 17 31337875 frameshift variant T/- del
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.700 0