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: rs1060500368
rs1060500368
NF1
1.000 0.120 17 31229157 missense variant G/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.710 1.000 1 2003 2018