chr21:43836186:G>A Detail (hg19) (UBASH3A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr21:43,836,186-43,836,186 |
hg38 | chr21:42,416,077-42,416,077 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001001895.2:c.554-365G>A | |
NM_018961.3:c.668-365G>A | ||
NM_001243467.1:c.554-365G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.039 | |
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 |
---|---|---|---|---|---|
<0.001 | Diabetes | In survival analysis, 45% of general population DAISY children with PTPN22 rs247... | BeFree | 25075402 | Detail |
0.122 | vitiligo | [We observed associations between generalized vitiligo and markers implicating m... | GAD | 20410501 | Detail |
0.133 | Diabetes Mellitus, Insulin-Dependent | [Genome-wide association study and meta-analysis find that over 40 loci affect r... | GAD | 19430480 | Detail |
0.122 | vitiligo | Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. | GWASCAT | 20410501 | Detail |
0.008 | Autoimmune Diseases | [Meta-analysis of genome-wide association studies in celiac disease and rheumato... | GAD | 21383967 | Detail |
0.122 | rheumatoid arthritis | [Genome-wide association study meta-analysis identifies seven new rheumatoid art... | GAD | 20453842 | Detail |
<0.001 | diabetes mellitus | In survival analysis, 45% of general population DAISY children with PTPN22 rs247... | BeFree | 25075402 | Detail |
0.133 | Diabetes Mellitus, Insulin-Dependent | Genome-wide association study and meta-analysis find that over 40 loci affect ri... | GWASCAT | 19430480 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
In survival analysis, 45% of general population DAISY children with PTPN22 rs2476601 TT or HLA-DR3/4... | DisGeNET | Detail |
[We observed associations between generalized vitiligo and markers implicating multiple genes, some ... | DisGeNET | Detail |
[Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabet... | DisGeNET | Detail |
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. | DisGeNET | Detail |
[Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identif... | DisGeNET | Detail |
[Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.] | DisGeNET | Detail |
In survival analysis, 45% of general population DAISY children with PTPN22 rs2476601 TT or HLA-DR3/4... | DisGeNET | Detail |
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabete... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs11203203 dbSNP
- Genome
- hg19
- Position
- chr21:43,836,186-43,836,186
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs11203203
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0391
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 655
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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