chr13:31326441:G>A Detail (hg19) (ALOX5AP)

Information

Genome

Assembly Position
hg19 chr13:31,326,441-31,326,441
hg38 chr13:30,752,304-30,752,304 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001204406.1:c.412+182G>A
NM_001629.3:c.241+182G>A
Ensemble ENST00000617770.4:c.412+182G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.008
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 tgv48170431 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
0.010 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
0.017 coronary artery disease rs4769874 (ALOX5AP), rs854560 (PON1), and rs4646903 (CYP1A1 MspI polymorphism) a... BeFree 25902778 Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs4769874 (ALOX5AP), rs854560 (PON1), and rs4646903 (CYP1A1 MspI polymorphism) are significantly ass... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4769874 dbSNP
Genome
hg19
Position
chr13:31,326,441-31,326,441
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs4769874
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0084
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
141
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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