rs587779411, CLN8

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.
Generalized cerebral atrophy/hypoplasia
2 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 0.700 0
Progressive psychomotor deterioration
2 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 0.700 0
Complex partial seizure with impairment of consciousness
10 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 0.700 0
CEROID LIPOFUSCINOSIS, NEURONAL, 8
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
43 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 0.700 0
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 0.700 0