rs1554902217, TPP1

N. diseases: 7
Source: CLINVAR ×
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
46 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
21 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
52 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
Flat face
CUI: C1853241
Disease: Flat face
7 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.851 0.160 11 6618821 frameshift variant A/- del 0.700 0