chr6:32177622:C>G Detail (hg38) (AGPAT1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:32,145,399-32,145,399 View the variant detail on this assembly version. |
| hg38 | chr6:32,177,622-32,177,622 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_032741.4:c.-10+379G>C | |
| Ensemble | ENST00000336984.6:c.-10+379G>C | |
| ENST00000395497.5:c.-88G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.027 | |
| 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 |
|---|---|---|---|---|---|
| 0.007 | diabetes mellitus | Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent d... | BeFree | 24742661 | Detail |
| 0.003 | Diabetes | Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent d... | BeFree | 24742661 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent diabetes risk (rs2070... | DisGeNET | Detail |
| Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent diabetes risk (rs2070... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs17493811 dbSNP
- Genome
- hg38
- Position
- chr6:32,177,622-32,177,622
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- 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))
- rs17493811
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0266
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 445
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser