chr1:173222336:G>T Detail (hg38) (TNFSF4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:173,191,475-173,191,475 View the variant detail on this assembly version. |
| hg38 | chr1:173,222,336-173,222,336 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000714429.1:c.-9-15151C>A | |
| ENST00000714430.1:c.-9-15151C>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.174 | |
| 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 |
|---|---|---|---|---|---|
| 0.148 | Lupus Erythematosus, Systemic | [The genetic contribution towards predicting early-onset disease in patients wit... | GAD | 20881011 | Detail |
| 0.148 | Lupus Erythematosus, Systemic | [Genome-wide association study in a Chinese Han population identifies nine new s... | GAD | 19838193 | Detail |
| 0.268 | Lupus Erythematosus, Systemic | Single-marker analysis validated the association of BLK rs2736340 (P=4.25×10(-6)... | BeFree | 21905002 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [The genetic contribution towards predicting early-onset disease in patients with SLE is quantified ... | DisGeNET | Detail |
| [Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci f... | DisGeNET | Detail |
| Single-marker analysis validated the association of BLK rs2736340 (P=4.25×10(-6)) as well as TNFSF4 ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2205960 dbSNP
- Genome
- hg38
- Position
- chr1:173,222,336-173,222,336
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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))
- rs2205960
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1744
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2923
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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