chr10:114788815:T>C Detail (hg19) (TCF7L2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:114,788,815-114,788,815 |
| hg38 | chr10:113,029,056-113,029,056 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001146274.1:c.451-10969T>C | |
| NM_001146283.1:c.382-10969T>C | ||
| NM_001198525.1:c.382-10969T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.031 | |
| 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 |
|---|---|---|---|---|---|
| 0.614 | Diabetes Mellitus, Non-Insulin-Dependent | Given the overlap between PCOS and T2DM, we investigated the association of tran... | BeFree | 24157263 | Detail |
| 0.014 | gestational diabetes | Association with GDM was found for two of the most frequently replicated T2D loc... | BeFree | 25973943 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Given the overlap between PCOS and T2DM, we investigated the association of transcription factor-7-l... | DisGeNET | Detail |
| Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotyp... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs12243326 dbSNP
- Genome
- hg19
- Position
- chr10:114,788,815-114,788,815
- 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))
- rs12243326
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0307
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 514
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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