chr7:128589427:G>A Detail (hg19) (IRF5)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:128,589,427-128,589,427 |
hg38 | chr7:128,949,373-128,949,373 View the variant detail on this assembly version. |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2008-03-15 | no assertion criteria provided | Systemic lupus erythematosus, susceptibility to, 10 |
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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
Descrption | Source | Links |
---|---|---|
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
- hg19
- Position
- chr7:128,589,427-128,589,427
- 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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