rs386833657, PPT1

N. diseases: 1
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 1.000 0.120 1 40080464 missense variant T/C snv 0.800 1.000 7 1995 2012