rs398122959, TPP1

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 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05 0.700 1.000 1 2013 2013
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
6 0.925 0.120 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05 0.800 1.000 1 2013 2013