chr11:589564:T>C Detail (hg19) (PHRF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:589,564-589,564 |
hg38 | chr11:589,564-589,564 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001286581.1:c.421-1820T>C | |
NM_001286583.1:c.421-1820T>C | ||
NM_020901.3:c.421-1820T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.960 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.022 | Lupus Erythematosus, Systemic | Additionally, rs4963128 and rs2246614 were correlated with a variety of clinical... | BeFree | 21167895 | Detail |
0.256 | Lupus Erythematosus, Systemic | [Genome-wide association scan in women with systemic lupus erythematosus identif... | GAD | 18204446 | Detail |
0.256 | Lupus Erythematosus, Systemic | Genome-wide association scan in women with systemic lupus erythematosus identifi... | GWASCAT | 18204446 | Detail |
0.121 | rheumatoid arthritis | A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... | BeFree | 19714582 | Detail |
0.125 | rheumatoid arthritis | A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... | BeFree | 19714582 | Detail |
<0.001 | rheumatoid arthritis | A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... | BeFree | 19714582 | Detail |
0.003 | rheumatoid arthritis | A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic facto... | BeFree | 19714582 | Detail |
0.256 | Lupus Erythematosus, Systemic | We genotyped one KIAA1542 SNP (rs4963128) and one IRF7 SNP (rs1131665 [Q412R]) i... | BeFree | 21360504 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Additionally, rs4963128 and rs2246614 were correlated with a variety of clinical subphenotypes, such... | DisGeNET | Detail |
[Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility v... | DisGeNET | Detail |
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility va... | DisGeNET | Detail |
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... | DisGeNET | Detail |
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... | DisGeNET | Detail |
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... | DisGeNET | Detail |
A characteristic single-nucleotide polymorphism (SNP) in each of 9 genetic factors, ITGAM (rs1143679... | DisGeNET | Detail |
We genotyped one KIAA1542 SNP (rs4963128) and one IRF7 SNP (rs1131665 [Q412R]) in an Asian populatio... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs4963128 dbSNP
- Genome
- hg19
- Position
- chr11:589,564-589,564
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs4963128
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9597
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16080
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
Genome browser