rs137852696, 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 40092409 missense variant T/G snv 1.6E-05 5.6E-05 0.800 1.000 9 1995 2013
Infantile neuronal ceroid lipofuscinosis
4 0.882 0.120 1 40092409 missense variant T/G snv 1.6E-05 5.6E-05 0.010 1.000 1 2001 2001
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.882 0.120 1 40092409 missense variant T/G snv 1.6E-05 5.6E-05 0.010 1.000 1 2006 2006