chr10:45891484:A>G Detail (hg19) (ALOX5)

Information

Genome

Assembly Position
hg19 chr10:45,891,484-45,891,484
hg38 chr10:45,396,036-45,396,036 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000698.4:c.431+100A>G
NM_001256153.2:c.431+100A>G
NM_001320861.1:c.431+100A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.587
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 152390 OMIM
HGNC 435 HGNC
Ensembl ENSG00000012779 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39153452 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Ischemic stroke In combined analysis of multiple genes and loci, individuals with ALOX5AP rs1242... BeFree 23079278 Detail
<0.001 Ischemic Cerebrovascular Accident In combined analysis of multiple genes and loci, individuals with ALOX5AP rs1242... BeFree 23079278 Detail
0.009 Ischemic stroke In combined analysis of multiple genes and loci, individuals with ALOX5AP rs1242... BeFree 23079278 Detail
0.003 Ischemic Cerebrovascular Accident In combined analysis of multiple genes and loci, individuals with ALOX5AP rs1242... BeFree 23079278 Detail
0.003 Ischemic stroke In combined analysis of multiple genes and loci, individuals with ALOX5AP rs1242... BeFree 23079278 Detail
0.004 Ischemic Cerebrovascular Accident In combined analysis of multiple genes and loci, individuals with ALOX5AP rs1242... BeFree 23079278 Detail
0.005 Acute coronary syndrome Presence of the common allele of rs9508835 (ALOX5AP) and the minor allele of rs2... BeFree 18398223 Detail
<0.001 Ischemic Cerebrovascular Accident Under the recessive genetic model, ALOX5 rs2029253 variant reduced IS risk (adju... BeFree 23079278 Detail
<0.001 Ischemic stroke Under the recessive genetic model, ALOX5 rs2029253 variant reduced IS risk (adju... BeFree 23079278 Detail
Annotation

Annotations

DescrptionSourceLinks
In combined analysis of multiple genes and loci, individuals with ALOX5AP rs12429692 T allele, ALOX5... DisGeNET Detail
In combined analysis of multiple genes and loci, individuals with ALOX5AP rs12429692 T allele, ALOX5... DisGeNET Detail
In combined analysis of multiple genes and loci, individuals with ALOX5AP rs12429692 T allele, ALOX5... DisGeNET Detail
In combined analysis of multiple genes and loci, individuals with ALOX5AP rs12429692 T allele, ALOX5... DisGeNET Detail
In combined analysis of multiple genes and loci, individuals with ALOX5AP rs12429692 T allele, ALOX5... DisGeNET Detail
In combined analysis of multiple genes and loci, individuals with ALOX5AP rs12429692 T allele, ALOX5... DisGeNET Detail
Presence of the common allele of rs9508835 (ALOX5AP) and the minor allele of rs2029253 (ALOX5) were ... DisGeNET Detail
Under the recessive genetic model, ALOX5 rs2029253 variant reduced IS risk (adjusted OR, 0.78; 95% C... DisGeNET Detail
Under the recessive genetic model, ALOX5 rs2029253 variant reduced IS risk (adjusted OR, 0.78; 95% C... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2029253 dbSNP
Genome
hg19
Position
chr10:45,891,484-45,891,484
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2029253
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5871
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9840
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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