chr13:31308329:T>G Detail (hg19) (ALOX5AP)

Information

Genome

Assembly Position
hg19 chr13:31,308,329-31,308,329
hg38 chr13:30,734,192-30,734,192 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001204406.1:c.117-1359T>G
Ensemble ENST00000617770.4:c.117-1359T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.179
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 603700 OMIM
HGNC 436 HGNC
Ensembl ENSG00000132965 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48169941 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
0.003 Ischemic Cerebrovascular Accident To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.002 Ischemic Cerebrovascular Accident To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.003 Ischemic stroke To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.001 Ischemic Cerebrovascular Accident To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.002 Ischemic stroke To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.001 Ischemic stroke To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.004 Ischemic Cerebrovascular Accident To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
0.009 Ischemic stroke To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... BeFree 21816595 Detail
Annotation

Annotations

DescrptionSourceLinks
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17222919 dbSNP
Genome
hg19
Position
chr13:31,308,329-31,308,329
Variant Type
snv
Reference Allele
T
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))
rs17222919
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1793
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3005
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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