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: rs1057518904
rs1057518904
NF1
0.882 0.240 17 31221932 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1994 2013
dbSNP: rs1057518904
rs1057518904
NF1
0.882 0.240 17 31221932 missense variant A/G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.700 1.000 6 1994 2015
dbSNP: rs1057518904
rs1057518904
NF1
0.882 0.240 17 31221932 missense variant A/G snv
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		0.700 0
dbSNP: rs1057518904
rs1057518904
NF1
0.882 0.240 17 31221932 missense variant A/G snv
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		0.700 0
dbSNP: rs1057518904
rs1057518904
NF1
0.882 0.240 17 31221932 missense variant A/G snv
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		0.700 0