rs148412181, PPT1

N. diseases: 3
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, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
86 0.882 0.120 1 40080483 missense variant C/A;T snv 1.2E-05; 8.8E-05 0.800 1.000 17 1995 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.120 1 40080483 missense variant C/A;T snv 1.2E-05; 8.8E-05 0.010 1.000 1 2012 2012
Infantile neuronal ceroid lipofuscinosis
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
4 0.882 0.120 1 40080483 missense variant C/A;T snv 1.2E-05; 8.8E-05 0.010 1.000 1 2012 2012