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: rs1555535032
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.700 1.000 4 1995 2014
dbSNP: rs1555535032
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1995 2007
dbSNP: rs1555535032
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555535032
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C1834297
Disease: Inguinal freckling
Inguinal freckling 		0.700 0
dbSNP: rs1555535032
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		0.700 0
dbSNP: rs1555535032
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.700 0
dbSNP: rs1555535032
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C1860334
Disease: Lisch nodules
Lisch nodules 		0.700 0
dbSNP: rs1555535032
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.700 0
dbSNP: rs1555535032
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		0.700 0