rs756564767, TPP1

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, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
66 0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05 0.700 1.000 2 1999 2012
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05 0.700 0
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
6 0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05 0.700 0