chr13:31309830:C>A Detail (hg19) (ALOX5AP)

Information

Genome

Assembly Position
hg19 chr13:31,309,830-31,309,830
hg38 chr13:30,735,693-30,735,693 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001629.3:c.70+18C>A
NM_001204406.1:c.241+18C>A
Ensemble ENST00000380490.5:c.70+18C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.509
ToMMo:0.515
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.535

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 tgv48170005 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 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.005 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.011 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.115 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.005 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.002 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.002 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.143 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.122 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
<0.001 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.006 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.143 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
Annotation

Annotations

DescrptionSourceLinks
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr13:31,309,830-31,309,830
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
836
Mean of sample read depth (HGVD)
19.94
Standard deviation of sample read depth (HGVD)
8.49
Number of reference allele (HGVD)
821
Number of alternative allele (HGVD)
851
Allele Frequency (HGVD)
0.5089712918660287
Gene Symbol (HGVD)
ALOX5AP
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))
rs4769055
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5146
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8624
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8546
East Asian Allele Counts (ExAC)
4575
East Asian Heterozygous Counts (ExAC)
2183
East Asian Homozygous Counts (ExAC)
1196
East Asian Allele Frequency (ExAC)
0.5353381699040487
Chromosome Counts in All Race (ExAC)
120362
Allele Counts in All Race (ExAC)
50019
Heterozygous Counts in All Race (ExAC)
26473
Homozygous Counts in All Race (ExAC)
11773
Allele Frequency in All Race (ExAC)
0.4155713597314767
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