rs119455957, 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 6616696 missense variant C/A snv 8.0E-06 7.0E-06 0.700 1.000 6 2001 2012
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 0.700 0
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
6 0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 0.700 0