rs553522118, 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.
Cerebellar cortical atrophy
CUI: C4024710
Disease: Cerebellar cortical atrophy
7 0.882 0.160 11 6617338 stop gained G/A;T snv 0.700 0
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
66 0.882 0.160 11 6617338 stop gained G/A;T snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.882 0.160 11 6617338 stop gained G/A;T snv 0.700 0
Reduced visual acuity
CUI: C0234632
Disease: Reduced visual acuity
10 0.882 0.160 11 6617338 stop gained G/A;T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 11 6617338 stop gained G/A;T snv 0.700 0