rs104894064, 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.
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 0.700 1.000 2 2000 2004
Northern epilepsy syndrome
CUI: C1864923
Disease: Northern epilepsy syndrome
2 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 0.800 1.000 2 1999 2012
CEROID LIPOFUSCINOSIS, NEURONAL, 8
CUI: C1838570
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8
43 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 0.700 0