rs1564855725, TPP1

N. diseases: 5
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.
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
66 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
11 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0