rs387907043, DNAJC5

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, Parry Type
2 0.925 0.120 20 63930873 missense variant T/A;G snv 4.0E-06 0.800 1.000 5 2011 2013
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.925 0.120 20 63930873 missense variant T/A;G snv 4.0E-06 0.020 1.000 2 2012 2015
Adult Neuronal Ceroid Lipofuscinosis
9 0.925 0.120 20 63930873 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2015 2015