chr7:50230076:G>A Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:50,269,672-50,269,672 View the variant detail on this assembly version. |
| hg38 | chr7:50,230,076-50,230,076 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.523 | |
| 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 |
|---|---|---|---|---|---|
| 0.002 | Crohn Disease | [Genome-wide association defines more than 30 distinct susceptibility loci for C... | GAD | 18587394 | Detail |
| 0.327 | ulcerative colitis | Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs... | BeFree | 21830272 | Detail |
| 0.254 | ulcerative colitis | Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs... | BeFree | 21830272 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [Genome-wide association defines more than 30 distinct susceptibility loci for Crohn\'s disease.] | DisGeNET | Detail |
| Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, ... | DisGeNET | Detail |
| Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1456893 dbSNP
- Genome
- hg38
- Position
- chr7:50,230,076-50,230,076
- 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))
- rs1456893
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5227
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8759
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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