chr17:6946287:T>C Detail (hg19) (SLC16A11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:6,946,287-6,946,287 |
| hg38 | chr17:7,042,968-7,042,968 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000662352.3:c.308A>G | ENST00000662352.3:p.Asp103Gly |
| ENST00000574600.3:c.308A>G | ENST00000574600.3:p.Asp103Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.084 |
| ToMMo:0.076 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.104 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2020-02-18 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.340 | Diabetes Mellitus, Non-Insulin-Dependent | Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... | BeFree | 25839936 | Detail |
| 0.614 | Diabetes Mellitus, Non-Insulin-Dependent | Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... | BeFree | 25839936 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... | BeFree | 25839936 | Detail |
| 0.055 | Diabetes Mellitus, Non-Insulin-Dependent | Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... | BeFree | 25839936 | Detail |
| 0.042 | Diabetes Mellitus, Non-Insulin-Dependent | Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... | BeFree | 25839936 | Detail |
| 0.121 | Diabetes Mellitus, Non-Insulin-Dependent | Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... | BeFree | 25839936 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... | BeFree | 25839936 | Detail |
| 0.025 | Diabetes Mellitus, Non-Insulin-Dependent | Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... | BeFree | 25839936 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001370549.1(SLC16A11):c.308A>G (p.Asp103Gly) AND not provided | ClinVar | Detail |
| Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... | DisGeNET | Detail |
| Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... | DisGeNET | Detail |
| Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... | DisGeNET | Detail |
| Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... | DisGeNET | Detail |
| Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... | DisGeNET | Detail |
| Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... | DisGeNET | Detail |
| Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... | DisGeNET | Detail |
| Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... | 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
- rs13342692 dbSNP
- Genome
- hg19
- Position
- chr17:6,946,287-6,946,287
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1207
- Mean of sample read depth (HGVD)
- 126.21
- Standard deviation of sample read depth (HGVD)
- 63.77
- Number of reference allele (HGVD)
- 2212
- Number of alternative allele (HGVD)
- 202
- Allele Frequency (HGVD)
- 0.08367854183927093
- Gene Symbol (HGVD)
- SLC16A11
- 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))
- rs13342692
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0764
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1280
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 7690
- East Asian Allele Counts (ExAC)
- 797
- East Asian Heterozygous Counts (ExAC)
- 721
- East Asian Homozygous Counts (ExAC)
- 38
- East Asian Allele Frequency (ExAC)
- 0.1036410923276983
- Chromosome Counts in All Race (ExAC)
- 100392
- Allele Counts in All Race (ExAC)
- 8774
- Heterozygous Counts in All Race (ExAC)
- 6256
- Homozygous Counts in All Race (ExAC)
- 1259
- Allele Frequency in All Race (ExAC)
- 0.08739740218344091
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