rs1554901898, TPP1

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
66 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
Facial Hypertrichosis
CUI: C1851400
Disease: Facial Hypertrichosis
2 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
Hearing abnormality
CUI: C4025860
Disease: Hearing abnormality
5 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
Multifocal epileptiform discharges
CUI: C4021219
Disease: Multifocal epileptiform discharges
9 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.776 0.280 11 6616858 frameshift variant A/- delins 0.700 0