chr4:122448621:T>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:123,369,776-123,369,776 View the variant detail on this assembly version. |
| hg38 | chr4:122,448,621-122,448,621 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.505 | |
| 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 | Addison's disease due to autoimmunity | The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, r... | BeFree | 25347332 | Detail |
| <0.001 | Autoimmune Primary Adrenal Insufficiency | The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, r... | BeFree | 25347332 | Detail |
| 0.002 | prostate carcinoma | We genotyped six variants previously associated with autoimmune disease (namely ... | BeFree | 20184734 | Detail |
| 0.007 | Malignant neoplasm of prostate | We genotyped six variants previously associated with autoimmune disease (namely ... | BeFree | 20184734 | Detail |
| 0.017 | Autoimmune Diseases | We genotyped six variants previously associated with autoimmune disease (namely ... | BeFree | 20184734 | Detail |
| 0.030 | multiple sclerosis | We undertook this study to investigate the potential role of polymorphisms rs313... | BeFree | 19523143 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, rs3136534, rs11594656... | DisGeNET | Detail |
| The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, rs3136534, rs11594656... | DisGeNET | Detail |
| We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs131197... | DisGeNET | Detail |
| We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs131197... | DisGeNET | Detail |
| We genotyped six variants previously associated with autoimmune disease (namely rs13151961, rs131197... | DisGeNET | Detail |
| We undertook this study to investigate the potential role of polymorphisms rs3136534, rs6822844 and ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs3136534 dbSNP
- Genome
- hg38
- Position
- chr4:122,448,621-122,448,621
- 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))
- rs3136534
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5048
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8461
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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