chr5:150239587:G>A Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:150,239,587-150,239,587 |
| hg38 | chr5:150,860,025-150,860,025 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.488 | |
| 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 |
| 0.124 | 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 |
| <0.001 | ulcerative colitis | Allele and genotype frequencies of rs1000113 and rs4958847 were determined in 82... | BeFree | 19098858 | 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 |
| 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 |
| Allele and genotype frequencies of rs1000113 and rs4958847 were determined in 823 CD (265 younger th... | DisGeNET | Detail |
| We analysed five variants (rs10758669 within JAK2, rs744166 within STAT3, rs4958847, rs11747270 and ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs4958847 dbSNP
- Genome
- hg19
- Position
- chr5:150,239,587-150,239,587
- 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))
- rs4958847
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4882
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8182
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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