rs878853324, PPT1

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 1 40078579 missense variant A/T snv 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0
CEROID LIPOFUSCINOSIS, NEURONAL, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
86 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0
Reduced visual acuity
CUI: C0234632
Disease: Reduced visual acuity
10 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0