rs119455955, TPP1

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.
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
6 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.700 0
Late-Infantile Neuronal Ceroid Lipfuscinosis
4 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.030 1.000 3 1998 2017
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.700 1.000 5 1997 2013
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
66 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.710 1.000 9 1997 2017