Source: ALL

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: rs1131691084
rs1131691084
NF1
1.000 0.120 17 31337517 frameshift variant GAGA/-;GA delins
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.700 1.000 2 1997 2007
dbSNP: rs1131691084
rs1131691084
NF1
1.000 0.120 17 31337517 frameshift variant GAGA/-;GA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0