chr8:27373865:G>A Detail (hg19) (EPHX2)

Information

Genome

Assembly Position
hg19 chr8:27,373,865-27,373,865
hg38 chr8:27,516,348-27,516,348 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001256482.1:c.701G>A NP_001243411.1:p.Arg234Gln
NM_001256484.1:c.701G>A NP_001243413.1:p.Arg234Gln
NM_001979.5:c.860G>A NP_001970.2:p.Arg287Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.195
ToMMo:0.215
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.211

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 132811 OMIM
HGNC 3402 HGNC
Ensembl ENSG00000120915 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32583866 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2005-05-27 no assertion criteria provided Hypercholesterolemia, familial, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Myocardial Ischemia We genotyped participants from the Copenhagen City Heart Study (n=10 352), the C... BeFree 19940276 Detail
<0.001 Ischemic stroke CYP2C8 rs17110453 and EPHX2 rs751141 two-locus interaction increases susceptibil... BeFree 25839935 Detail
0.004 Ischemic stroke CYP2C8 rs17110453 and EPHX2 rs751141 two-locus interaction increases susceptibil... BeFree 25839935 Detail
0.002 Ischemic Cerebrovascular Accident CYP2C8 rs17110453 and EPHX2 rs751141 two-locus interaction increases susceptibil... BeFree 25839935 Detail
<0.001 Ischemic Cerebrovascular Accident CYP2C8 rs17110453 and EPHX2 rs751141 two-locus interaction increases susceptibil... BeFree 25839935 Detail
0.010 Cerebrovascular accident Eight variants in five candidate genes were examined for the risk of stroke, inc... BeFree 24368493 Detail
0.115 Cerebrovascular accident Eight variants in five candidate genes were examined for the risk of stroke, inc... BeFree 24368493 Detail
0.091 Cerebrovascular accident Eight variants in five candidate genes were examined for the risk of stroke, inc... BeFree 24368493 Detail
0.005 Cardiovascular Diseases Associations between the EPHX2 Lys55Arg and Arg287Gln polymorphisms and cardiova... BeFree 21098312 Detail
<0.001 Coronary heart disease There are several functional polymorphisms in the EPHX2 gene: two of them, the K... BeFree 20065888 Detail
0.008 Coronary Arteriosclerosis There are several functional polymorphisms in the EPHX2 gene: two of them, the K... BeFree 20065888 Detail
0.120 Hypercholesterolemia, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001979.6(EPHX2):c.860G>A (p.Arg287Gln) AND Hypercholesterolemia, familial, 1 ClinVar Detail
We genotyped participants from the Copenhagen City Heart Study (n=10 352), the Copenhagen General Po... DisGeNET Detail
CYP2C8 rs17110453 and EPHX2 rs751141 two-locus interaction increases susceptibility to ischemic stro... DisGeNET Detail
CYP2C8 rs17110453 and EPHX2 rs751141 two-locus interaction increases susceptibility to ischemic stro... DisGeNET Detail
CYP2C8 rs17110453 and EPHX2 rs751141 two-locus interaction increases susceptibility to ischemic stro... DisGeNET Detail
CYP2C8 rs17110453 and EPHX2 rs751141 two-locus interaction increases susceptibility to ischemic stro... DisGeNET Detail
Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... DisGeNET Detail
Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... DisGeNET Detail
Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... DisGeNET Detail
Associations between the EPHX2 Lys55Arg and Arg287Gln polymorphisms and cardiovascular disease risk ... DisGeNET Detail
There are several functional polymorphisms in the EPHX2 gene: two of them, the K55R and R287Q, showi... DisGeNET Detail
There are several functional polymorphisms in the EPHX2 gene: two of them, the K55R and R287Q, showi... DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs751141 dbSNP
Genome
hg19
Position
chr8:27,373,865-27,373,865
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1197
Mean of sample read depth (HGVD)
70.88
Standard deviation of sample read depth (HGVD)
37.92
Number of reference allele (HGVD)
1928
Number of alternative allele (HGVD)
466
Allele Frequency (HGVD)
0.1946532999164578
Gene Symbol (HGVD)
EPHX2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs751141
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2148
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3600
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
1825
East Asian Heterozygous Counts (ExAC)
1403
East Asian Homozygous Counts (ExAC)
211
East Asian Allele Frequency (ExAC)
0.2111779680629484
Chromosome Counts in All Race (ExAC)
121390
Allele Counts in All Race (ExAC)
13999
Heterozygous Counts in All Race (ExAC)
12019
Homozygous Counts in All Race (ExAC)
990
Allele Frequency in All Race (ExAC)
0.11532251421039624
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