chr13:30738041:A>T Detail (hg38) (ALOX5AP)

Information

Genome

Assembly Position
hg19 chr13:31,312,178-31,312,178 View the variant detail on this assembly version.
hg38 chr13:30,738,041-30,738,041

HGVS

Type Transcript Protein
RefSeq NM_001629.3:c.70+2366A>T
NM_001204406.1:c.241+2366A>T
Ensemble ENST00000380490.5:c.70+2366A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.319
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 tgv48170052 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
<0.001 adenoma One SNP in FLAP (rs12429692) was associated with adenoma risk. BeFree 23404351 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
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
One SNP in FLAP (rs12429692) was associated with adenoma risk. 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12429692 dbSNP
Genome
hg38
Position
chr13:30,738,041-30,738,041
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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))
rs12429692
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3189
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5345
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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