chr13:31332547:A>C Detail (hg19) (ALOX5AP)

Information

Genome

Assembly Position
hg19 chr13:31,332,547-31,332,547
hg38 chr13:30,758,410-30,758,410 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001204406.1:c.494+2385A>C
NM_001629.3:c.323+2385A>C
Ensemble ENST00000617770.4:c.494+2385A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.357
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 tgv48170592 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
0.009 Ischemic stroke These results suggest the ALOX5AP SNP A allele in rs4073259 and genotype rs95796... BeFree 22849376 Detail
0.004 Ischemic Cerebrovascular Accident These results suggest the ALOX5AP SNP A allele in rs4073259 and genotype rs95796... BeFree 22849376 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
These results suggest the ALOX5AP SNP A allele in rs4073259 and genotype rs9579646 GG, rs9551963 AC,... DisGeNET Detail
These results suggest the ALOX5AP SNP A allele in rs4073259 and genotype rs9579646 GG, rs9551963 AC,... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9551963 dbSNP
Genome
hg19
Position
chr13:31,332,547-31,332,547
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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))
rs9551963
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3572
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5986
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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