rs386834124, CLN8

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.
CEROID LIPOFUSCINOSIS, NEURONAL, 8
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
43 0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 0.800 1.000 7 2004 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 3 2015 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 3 2015 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 3 2015 2017