rs137852698, PPT1

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.
CEROID LIPOFUSCINOSIS, NEURONAL, 1
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
86 0.925 0.120 1 40078630 missense variant A/T snv 0.800 1.000 7 1995 2012
Infantile neuronal ceroid lipofuscinosis
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
4 0.925 0.120 1 40078630 missense variant A/T snv 0.010 1.000 1 2001 2001