rs386833659, PPT1

N. diseases: 2
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.
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.925 0.120 1 40078659 splice acceptor variant C/A;T snv 4.0E-06 0.700 1.000 3 2000 2007
CEROID LIPOFUSCINOSIS, NEURONAL, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
86 0.925 0.120 1 40078659 splice acceptor variant C/A;T snv 4.0E-06 0.700 1.000 1 2000 2000