chr13:30732134:G>A Detail (hg38) (ALOX5AP)

Go to:

Information

Genome

Assembly	Position
hg19	chr13:31,306,271-31,306,271 View the variant detail on this assembly version.
hg38	chr13:30,732,134-30,732,134

Type	Transcript	Protein
RefSeq	NM_001204406.1:c.117-3417G>A
Ensemble	ENST00000617770.4:c.117-3417G>A

Summary

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	tgv48169888	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
0.009	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

Descrption	Source	Links
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

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs4073259 dbSNP
Genome: hg38
Position: chr13:30,732,134-30,732,134
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)): rs4073259
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.4869
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 8161
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

Genome browser