chr20:44747947:T>G Detail (hg19) (CD40)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:44,747,947-44,747,947 |
| hg38 | chr20:46,119,308-46,119,308 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_152854.3:c.51+914T>G | |
| NM_001250.5:c.51+914T>G | ||
| NM_001302753.1:c.51+914T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.605 | |
| 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 |
|---|---|---|---|---|---|
| 0.006 | rheumatoid arthritis | One thousand five hundred and seventy-five patients fulfilling the 1987 ACR clas... | BeFree | 23166616 | Detail |
| 0.051 | rheumatoid arthritis | Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... | BeFree | 23678157 | Detail |
| 0.123 | rheumatoid arthritis | Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... | BeFree | 23678157 | Detail |
| 0.128 | rheumatoid arthritis | Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... | BeFree | 23678157 | Detail |
| 0.255 | rheumatoid arthritis | The TT and CC/CG genotypes of 2 single-nucleotide polymorphisms, rs4810485 (CD40... | BeFree | 19644859 | Detail |
| 0.277 | rheumatoid arthritis | Common variants at CD40 and other loci confer risk of rheumatoid arthritis. | GWASCAT | 18794853 | Detail |
| 0.277 | rheumatoid arthritis | [Common variants at CD40 and other loci confer risk of rheumatoid arthritis.] | GAD | 18794853 | Detail |
| 0.277 | rheumatoid arthritis | Genome-wide association study meta-analysis identifies seven new rheumatoid arth... | GWASCAT | 20453842 | Detail |
| 0.345 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.311 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.277 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.317 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.524 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.254 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.129 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| One thousand five hundred and seventy-five patients fulfilling the 1987 ACR classification criteria ... | DisGeNET | Detail |
| Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... | DisGeNET | Detail |
| Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... | DisGeNET | Detail |
| Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... | DisGeNET | Detail |
| The TT and CC/CG genotypes of 2 single-nucleotide polymorphisms, rs4810485 (CD40) and rs42041 (CDK6)... | DisGeNET | Detail |
| Common variants at CD40 and other loci confer risk of rheumatoid arthritis. | DisGeNET | Detail |
| [Common variants at CD40 and other loci confer risk of rheumatoid arthritis.] | DisGeNET | Detail |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4810485 dbSNP
- Genome
- hg19
- Position
- chr20:44,747,947-44,747,947
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- 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))
- rs4810485
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6054
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10146
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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