chr5:150843825:T>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:150,223,387-150,223,387 View the variant detail on this assembly version. |
| hg38 | chr5:150,843,825-150,843,825 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.347 | |
| 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 |
|---|---|---|---|---|---|
| 0.003 | Inflammatory Bowel Diseases | NCF4 and IRGM were significantly associated with ileal CD (P-value(rs4821544)=0.... | BeFree | 18580884 | Detail |
| 0.170 | Crohn Disease | The aim of this study was to determine the role of the ATG16L1 (rs2241880) and I... | BeFree | 19491842 | Detail |
| 0.368 | Crohn Disease | The aim of this study was to determine the role of the ATG16L1 (rs2241880) and I... | BeFree | 19491842 | Detail |
| 0.002 | Crohn Disease | [Sequence variants in the autophagy gene IRGM and multiple other replicating loc... | GAD | 17554261 | Detail |
| 0.124 | ulcerative colitis | In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and... | BeFree | 19491842 | Detail |
| 0.033 | ulcerative colitis | In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and... | BeFree | 19491842 | Detail |
| 0.133 | Inflammatory Bowel Diseases | We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958... | BeFree | 22065112 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NCF4 and IRGM were significantly associated with ileal CD (P-value(rs4821544)=0.0090, odds ratio (OR... | DisGeNET | Detail |
| The aim of this study was to determine the role of the ATG16L1 (rs2241880) and IRGM (rs13361189 and ... | DisGeNET | Detail |
| The aim of this study was to determine the role of the ATG16L1 (rs2241880) and IRGM (rs13361189 and ... | DisGeNET | Detail |
| [Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Croh... | DisGeNET | Detail |
| In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorph... | DisGeNET | Detail |
| In conclusion, our results confirm the ATG16L1 rs2241880 and IRGM rs13361189 and rs4958847 polymorph... | DisGeNET | Detail |
| We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958847, rs11747270 and ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs13361189 dbSNP
- Genome
- hg38
- Position
- chr5:150,843,825-150,843,825
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs13361189
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3469
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5814
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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