chr17:7001615:A>G Detail (hg38) (ALOX12, ALOX12-AS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:6,904,934-6,904,934 View the variant detail on this assembly version. |
| hg38 | chr17:7,001,615-7,001,615 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000697.2:c.965A>G | NP_000688.2:p.Asn322Ser |
| Ensemble | ENST00000251535.11:c.965A>G | ENST00000251535.11:p.Asn322Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.363 |
| ToMMo:0.370 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.492 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2021-06-09 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | Ischemic Cerebrovascular Accident | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.002 | Ischemic Cerebrovascular Accident | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.003 | Ischemic stroke | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.001 | Ischemic Cerebrovascular Accident | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.002 | Ischemic stroke | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.001 | Ischemic stroke | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.004 | Ischemic Cerebrovascular Accident | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| 0.009 | Ischemic stroke | To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid bios... | BeFree | 21816595 | Detail |
| <0.001 | Toxoplasmosis, Congenital | Here we report that the human ALOX12 gene has susceptibility alleles for human c... | BeFree | 24686056 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000697.3(ALOX12):c.965A>G (p.Asn322Ser) AND not provided | ClinVar | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| To investigate whether single nucleotide polymorphisms (SNPs) of eicosanoid biosynthesis genes are a... | DisGeNET | Detail |
| Here we report that the human ALOX12 gene has susceptibility alleles for human congenital toxoplasmo... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs434473 dbSNP
- Genome
- hg38
- Position
- chr17:7,001,615-7,001,615
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 223.77
- Standard deviation of sample read depth (HGVD)
- 105.45
- Number of reference allele (HGVD)
- 1540
- Number of alternative allele (HGVD)
- 878
- Allele Frequency (HGVD)
- 0.3631100082712986
- Gene Symbol (HGVD)
- ALOX12
- 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))
- rs434473
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3705
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6210
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8634
- East Asian Allele Counts (ExAC)
- 4244
- East Asian Heterozygous Counts (ExAC)
- 2226
- East Asian Homozygous Counts (ExAC)
- 1009
- East Asian Allele Frequency (ExAC)
- 0.49154505443595087
- Chromosome Counts in All Race (ExAC)
- 121342
- Allele Counts in All Race (ExAC)
- 46648
- Heterozygous Counts in All Race (ExAC)
- 27682
- Homozygous Counts in All Race (ExAC)
- 9483
- Allele Frequency in All Race (ExAC)
- 0.3844340788844753
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