chr1:58782321:C>T Detail (hg38) (JUN)

Information

Genome

Assembly Position
hg19 chr1:59,247,993-59,247,993 View the variant detail on this assembly version.
hg38 chr1:58,782,321-58,782,321

HGVS

Type Transcript Protein
RefSeq NM_002228.3:c.750G>A NP_002219.1:p.Gln250=
Ensemble ENST00000371222.4:c.750G>A ENST00000371222.4:p.Gln250=
ENST00000710273.1:c.816G>A ENST00000710273.1:p.Gln272=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.020
ToMMo:0.016
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.029

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 165160 OMIM
HGNC 6204 HGNC
Ensembl ENSG00000177606 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1673700 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
hg38
Position
chr1:58,782,321-58,782,321
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
146.03
Standard deviation of sample read depth (HGVD)
71.77
Number of reference allele (HGVD)
2372
Number of alternative allele (HGVD)
48
Allele Frequency (HGVD)
0.019834710743801654
Gene Symbol (HGVD)
JUN
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))
rs11688
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0162
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
272
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
253
East Asian Heterozygous Counts (ExAC)
247
East Asian Homozygous Counts (ExAC)
3
East Asian Allele Frequency (ExAC)
0.029248554913294797
Chromosome Counts in All Race (ExAC)
120884
Allele Counts in All Race (ExAC)
6952
Heterozygous Counts in All Race (ExAC)
6230
Homozygous Counts in All Race (ExAC)
361
Allele Frequency in All Race (ExAC)
0.057509678700241554
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