rs121918399, APOE

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LIPOPROTEIN GLOMERULOPATHY
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
0.820 GeneticVariation BEFREE Three types of APOE mutation have been detected in those patients: APOE Maebashi (142Arg-144Leu-0) and APOE Kyoto (Arg25-Cys) were initially reported, and APOE Guangzhou (Arg150-Pro) is a novel mutation in Chinese patients with LPG. 24165683 2014
LIPOPROTEIN GLOMERULOPATHY
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
0.820 GeneticVariation UNIPROT APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. 18077821 2007
LIPOPROTEIN GLOMERULOPATHY
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
0.820 GeneticVariation UNIPROT Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice. 10903326 2000
LIPOPROTEIN GLOMERULOPATHY
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
0.820 GeneticVariation UNIPROT Apo E2 (Arg25Cys) Kyoto is a novel mutation of apo E that is etiologically related to LPG. 10432380 1999
LIPOPROTEIN GLOMERULOPATHY
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
0.820 GeneticVariation BEFREE Apo E2 (Arg25Cys) Kyoto is a novel mutation of apo E that is etiologically related to LPG. 10432380 1999
LIPOPROTEIN GLOMERULOPATHY
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
0.820 GeneticVariation UNIPROT Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy. 9176854 1997
LIPOPROTEIN GLOMERULOPATHY
CUI: C2673196
Disease: LIPOPROTEIN GLOMERULOPATHY
0.820 CausalMutation CLINVAR
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
0.010 GeneticVariation BEFREE A haplotype consisting of the five SNPs rs769446(C), rs405509(C), rs121918399(C), rs429358(T), and rs190853081(G) was associated with a decreased risk of CP (P = 0.002 after Bonferroni correction). 24522486 2014