chr2:203837937:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:204,702,660-204,702,660 View the variant detail on this assembly version. |
| hg38 | chr2:203,837,937-203,837,937 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.270 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.001 | rheumatoid arthritis | For the SNPs CT60 and rs1863800, unrelated patients with RA (n = 759) were compa... | BeFree | 15022315 | Detail |
| 0.064 | Autoimmune Diseases | Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs455... | BeFree | 25003519 | Detail |
| 0.005 | thymoma | A predisposing effect of rs1863800*C, rs733618*C, and rs231775*G of CTLA4 gene t... | BeFree | 25003519 | Detail |
| <0.001 | Generalized vitiligo | Examination of five SNPs in the CTLA4 gene (rs1863800, rs231775, rs3087243, rs11... | BeFree | 18200060 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| For the SNPs CT60 and rs1863800, unrelated patients with RA (n = 759) were compared with controls (n... | DisGeNET | Detail |
| Six autoimmune disease-related risk alleles of CTLA4 (rs1863800, rs733618, rs4553808, rs5742909, rs2... | DisGeNET | Detail |
| A predisposing effect of rs1863800*C, rs733618*C, and rs231775*G of CTLA4 gene to general risk of MG... | DisGeNET | Detail |
| Examination of five SNPs in the CTLA4 gene (rs1863800, rs231775, rs3087243, rs11571302, rs11571297, ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1863800 dbSNP
- Genome
- hg38
- Position
- chr2:203,837,937-203,837,937
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs1863800
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2696
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4518
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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