chr10:45382602:G>A Detail (hg38) (ALOX5)

Information

Genome

Assembly Position
hg19 chr10:45,878,050-45,878,050 View the variant detail on this assembly version.
hg38 chr10:45,382,602-45,382,602

HGVS

Type Transcript Protein
RefSeq NM_000698.4:c.270G>A NP_000689.1:p.Thr90=
NM_001256153.2:c.270G>A NP_001243082.1:p.Thr90=
NM_001320861.1:c.270G>A NP_001307790.1:p.Thr90=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.040
ToMMo:0.038
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.064

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 152390 OMIM
HGNC 435 HGNC
Ensembl ENSG00000012779 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39153035 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
0.003 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
Annotation

Annotations

DescrptionSourceLinks
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

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
-
Genome
hg38
Position
chr10:45,382,602-45,382,602
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1139
Mean of sample read depth (HGVD)
30.46
Standard deviation of sample read depth (HGVD)
16.94
Number of reference allele (HGVD)
2186
Number of alternative allele (HGVD)
92
Allele Frequency (HGVD)
0.04038630377524144
Gene Symbol (HGVD)
ALOX5
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))
rs2228064
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0384
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
643
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8576
East Asian Allele Counts (ExAC)
546
East Asian Heterozygous Counts (ExAC)
508
East Asian Homozygous Counts (ExAC)
19
East Asian Allele Frequency (ExAC)
0.06366604477611941
Chromosome Counts in All Race (ExAC)
119558
Allele Counts in All Race (ExAC)
4784
Heterozygous Counts in All Race (ExAC)
3834
Homozygous Counts in All Race (ExAC)
475
Allele Frequency in All Race (ExAC)
0.04001405175730608
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