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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
dbSNP (classic)rs751141
ClinGenrs751141
ebirs751141
HLIrs751141
Exacrs751141
Gnomadrs751141
Varsomers751141
LitVarrs751141
Maprs751141
PheGenIrs751141
Biobankrs751141
1000 genomesrs751141
hgdprs751141
ensemblrs751141
geneviewrs751141
scholarrs751141
googlers751141
pharmgkbrs751141
gwascentralrs751141
openSNPrs751141
23andMers751141
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 UniProtKB (protein)
CLNACC RCV000018074.24,



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