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rs751141

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs751141(C;T)
Make rs751141(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position27516348
GeneEPHX2
is asnp
is mentioned by
dbSNPrs751141
ebirs751141
HLIrs751141
Exacrs751141
Varsomers751141
Maprs751141
PheGenIrs751141
hapmaprs751141
1000 genomesrs751141
hgdprs751141
ensemblrs751141
gopubmedrs751141
geneviewrs751141
scholarrs751141
googlers751141
pharmgkbrs751141
gwascentralrs751141
openSNPrs751141
23andMers751141
23andMe allrs751141
SNP Nexus

SNPshotrs751141
SNPdbers751141
MSV3drs751141
GWAS Ctlgrs751141
GMAF0.1428
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM132811
Desc
Variant0001
Relatedalso


ClinVar
Risk rs751141(T;T)
Alt rs751141(T;T)
Reference rs751141(C;C)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene EPHX2
CLNDBN Familial hypercholesterolemia
Reversed 1
HGVS NC_000008.10:g.27373865G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018074.24,



[PMID 18282109OA-icon.png] Adaptations to climate in candidate genes for common metabolic disorders.


[PMID 18589104] Genetic variations in soluble epoxide hydrolase and graft function in kidney transplantation.


[PMID 21429967] In vivo activity of epoxide hydrolase according to sequence variation affects the progression of human IgA nephropathy.


GET Evidence
EPHX2-R287Q
aa_change Arg287Gln
aa_change_short R287Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.103644
summary



[PMID 23711456] Variations in the human soluble epoxide hydrolase gene and recurrence of atrial fibrillation after catheter ablation


[PMID 24368493] Interaction between ALOX5AP and CYP3A5 gene variants significantly increases the risk for cerebral infarctions in Chinese


[PMID 25947240] Interaction among CYP2C8, EPHX2, and CYP4A11 Gene Variants Significantly Increases the Risk for Ischemic Stroke in Chinese Populations