rs104894060, CLN8

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.
Northern epilepsy syndrome
CUI: C1864923
Disease: Northern epilepsy syndrome
2 0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06 0.700 0
CEROID LIPOFUSCINOSIS, NEURONAL, 8
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
43 0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06 0.800 1.000 8 2004 2016
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06 0.700 1.000 4 2004 2014