chr9:21304803:G>A Detail (hg19) (IFNA5)

Information

Genome

Assembly Position
hg19 chr9:21,304,803-21,304,803
hg38 chr9:21,304,804-21,304,804 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002169.2:c.453C>T NP_002160.1:p.Thr151=
Ensemble ENST00000610521.2:c.453C>T ENST00000610521.2:p.Thr151=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.490
ToMMo:0.513
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.479

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147565 OMIM
HGNC 5426 HGNC
Ensembl ENSG00000147873 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv35763245 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 bronchiolitis SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093... BeFree 17703412 Detail
0.003 bronchiolitis SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093... BeFree 17703412 Detail
<0.001 bronchiolitis SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093... BeFree 17703412 Detail
<0.001 bronchiolitis SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093... BeFree 17703412 Detail
Annotation

Annotations

DescrptionSourceLinks
SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093), IFNA5 (rs10757212... DisGeNET Detail
SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093), IFNA5 (rs10757212... DisGeNET Detail
SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093), IFNA5 (rs10757212... DisGeNET Detail
SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093), IFNA5 (rs10757212... 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
hg19
Position
chr9:21,304,803-21,304,803
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1204
Mean of sample read depth (HGVD)
111.89
Standard deviation of sample read depth (HGVD)
64.91
Number of reference allele (HGVD)
1227
Number of alternative allele (HGVD)
1178
Allele Frequency (HGVD)
0.48981288981288984
Gene Symbol (HGVD)
IFNA5
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))
rs10757212
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5127
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8593
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
4140
East Asian Heterozygous Counts (ExAC)
2074
East Asian Homozygous Counts (ExAC)
1033
East Asian Allele Frequency (ExAC)
0.47905577412635963
Chromosome Counts in All Race (ExAC)
121394
Allele Counts in All Race (ExAC)
29395
Heterozygous Counts in All Race (ExAC)
20929
Homozygous Counts in All Race (ExAC)
4233
Allele Frequency in All Race (ExAC)
0.242145410811078
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