rs137852700, PPT1

N. diseases: 4
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, infantile
1 0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 0.010 1.000 1 2015 2015
Infantile neuronal ceroid lipofuscinosis
4 0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 0.020 1.000 2 2009 2015
CEROID LIPOFUSCINOSIS, NEURONAL, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
86 0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 0.710 1.000 4 1998 2013
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 0.710 1.000 4 1998 2014