chr17:48911235:C>T Detail (hg38) (UBE2Z)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:46,988,597-46,988,597 View the variant detail on this assembly version. |
| hg38 | chr17:48,911,235-48,911,235 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_023079.4:c.390+355C>T | |
| Ensemble | ENST00000360943.10:c.390+355C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.729 | |
| 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 | arteriosclerosis | The present study attempted to replicate the results for eight of these loci, CD... | BeFree | 24573017 | Detail |
| <0.001 | arteriosclerosis | The present study attempted to replicate the results for eight of these loci, CD... | BeFree | 24573017 | Detail |
| 0.001 | arteriosclerosis | The present study attempted to replicate the results for eight of these loci, CD... | BeFree | 24573017 | Detail |
| 0.003 | atherosclerosis | The present study attempted to replicate the results for eight of these loci, CD... | BeFree | 24573017 | Detail |
| <0.001 | atherosclerosis | The present study attempted to replicate the results for eight of these loci, CD... | BeFree | 24573017 | Detail |
| <0.001 | atherosclerosis | The present study attempted to replicate the results for eight of these loci, CD... | BeFree | 24573017 | Detail |
| <0.001 | arteriosclerosis | The present study attempted to replicate the results for eight of these loci, CD... | BeFree | 24573017 | Detail |
| <0.001 | atherosclerosis | The present study attempted to replicate the results for eight of these loci, CD... | BeFree | 24573017 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | We analysed here the association between T2D (and related traits) and rs4402960 ... | BeFree | 20627640 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | We analysed here the association between T2D (and related traits) and rs4402960 ... | BeFree | 20627640 | Detail |
| 0.120 | Coronary heart disease | Large-scale association analysis identifies 13 new susceptibility loci for coron... | GWASCAT | 21378990 | Detail |
| <0.001 | Chronic Kidney Diseases | The χ(2) test revealed that rs4845625 (T→C) of IL6R, rs4773144 (A→G) of COL4A1, ... | BeFree | 25524550 | Detail |
| 0.002 | coronary artery disease | [Large-scale association analysis identifies 13 new susceptibility loci for coro... | GAD | 21378990 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... | DisGeNET | Detail |
| The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... | DisGeNET | Detail |
| The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... | DisGeNET | Detail |
| The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... | DisGeNET | Detail |
| The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... | DisGeNET | Detail |
| The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... | DisGeNET | Detail |
| The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... | DisGeNET | Detail |
| The present study attempted to replicate the results for eight of these loci, CDKN2A/B(rs1333049), A... | DisGeNET | Detail |
| We analysed here the association between T2D (and related traits) and rs4402960 and rs1470579 in IGF... | DisGeNET | Detail |
| We analysed here the association between T2D (and related traits) and rs4402960 and rs1470579 in IGF... | DisGeNET | Detail |
| Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. | DisGeNET | Detail |
| The χ(2) test revealed that rs4845625 (T→C) of IL6R, rs4773144 (A→G) of COL4A1, rs9319428 (G→A) of F... | DisGeNET | Detail |
| [Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs46522 dbSNP
- Genome
- hg38
- Position
- chr17:48,911,235-48,911,235
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs46522
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7293
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12223
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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