chr7:128949373:G>A Detail (hg38) (IRF5)

Information

Genome

Assembly Position
hg19 chr7:128,589,427-128,589,427 View the variant detail on this assembly version.
hg38 chr7:128,949,373-128,949,373

HGVS

Type Transcript Protein
RefSeq NM_001098629.2:c.*555G>A
NM_001098630.2:c.*555G>A
NM_001098627.3:c.*555G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.482
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 607218 OMIM
HGNC 6120 HGNC
Ensembl ENSG00000128604 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30950167 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2008-03-15 no assertion criteria provided Systemic lupus erythematosus, susceptibility to, 10 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding) NA CLINVAR Detail
<0.001 uveitis Consistently, the subphenotype analysis accordingly with the presence/absence of... BeFree 24116155 Detail
0.235 Lupus Erythematosus, Systemic Association of rs10954213 polymorphisms and haplotype diversity in interferon re... BeFree 23392701 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001098629.3(IRF5):c.*555G>A AND Systemic lupus erythematosus, susceptibility to, 10 ClinVar Detail
NA DisGeNET Detail
Consistently, the subphenotype analysis accordingly with the presence/absence of this clinical condi... DisGeNET Detail
Association of rs10954213 polymorphisms and haplotype diversity in interferon regulatory factor 5 wi... 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
rs10954213 dbSNP
Genome
hg38
Position
chr7:128,949,373-128,949,373
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))
rs10954213
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4822
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8080
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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