chr14:80203237:T>C Detail (hg38) (DIO2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:80,669,580-80,669,580 View the variant detail on this assembly version. |
| hg38 | chr14:80,203,237-80,203,237 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_013989.4:c.274A>G | NP_054644.1:p.Thr92Ala |
| NM_000793.5:c.274A>G | NP_000784.2:p.Thr92Ala | |
| Ensemble | ENST00000438257.9:c.274A>G | ENST00000438257.9:p.Thr92Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.380 |
| ToMMo:0.367 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.458 |
Prediction
ClinVar
| Clinical Significance |
other
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
other
|
no assertion criteria provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Osteoarthritis of hip | Confirmation and replication by association in the additional osteoarthritis stu... | BeFree | 18334578 | Detail |
| 0.001 | Metabolic syndrome X | Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of ... | BeFree | 18198294 | Detail |
| 0.009 | Diabetes Mellitus, Non-Insulin-Dependent | Additionally, systematic review and meta-analysis of the literature for genetic ... | BeFree | 20566590 | Detail |
| 0.003 | obesity | Molecular scanning of DIO2 in 50 obese Caucasians demonstrated a Thr92Ala varian... | BeFree | 11872697 | Detail |
| 0.003 | Metabolic syndrome X | Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of ... | BeFree | 18198294 | Detail |
| 0.009 | Diabetes Mellitus, Non-Insulin-Dependent | The DIO2 Thr92Ala variant does not confer an increased risk of T2D, obesity, or ... | BeFree | 17077128 | Detail |
| 0.009 | Degenerative polyarthritis | The allelic imbalance of the DIO2 mRNA transcript, with the OA risk allele 'C' o... | BeFree | 22492780 | Detail |
| 0.003 | hypothyroidism | A polymorphism (Thr92Ala) in the gene encoding the deiodinase 2 (D2) enzyme that... | BeFree | 22548953 | Detail |
| 0.003 | Graves Disease | This suggests that the Thr92Ala variant of the DIO2 gene is associated or may be... | BeFree | 15542398 | Detail |
| <0.001 | Kashin-Beck Disease | In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs180066... | BeFree | 24058403 | Detail |
| <0.001 | Kashin-Beck Disease | In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs180066... | BeFree | 24058403 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_013989.5(DIO2):c.274A>G (p.Thr92Ala) AND Levothyroxine response | ClinVar | Detail |
| Confirmation and replication by association in the additional osteoarthritis studies indicated a com... | DisGeNET | Detail |
| Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome. | DisGeNET | Detail |
| Additionally, systematic review and meta-analysis of the literature for genetic association studies ... | DisGeNET | Detail |
| Molecular scanning of DIO2 in 50 obese Caucasians demonstrated a Thr92Ala variant. | DisGeNET | Detail |
| Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome. | DisGeNET | Detail |
| The DIO2 Thr92Ala variant does not confer an increased risk of T2D, obesity, or insulin resistance. | DisGeNET | Detail |
| The allelic imbalance of the DIO2 mRNA transcript, with the OA risk allele 'C' of rs225014 more abun... | DisGeNET | Detail |
| A polymorphism (Thr92Ala) in the gene encoding the deiodinase 2 (D2) enzyme that converts thyroxine ... | DisGeNET | Detail |
| This suggests that the Thr92Ala variant of the DIO2 gene is associated or may be in linkage disequil... | DisGeNET | Detail |
| In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs1800668 and rs3811699), Tr... | DisGeNET | Detail |
| In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs1800668 and rs3811699), Tr... | 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
- -
- Genome
- hg38
- Position
- chr14:80,203,237-80,203,237
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1199
- Mean of sample read depth (HGVD)
- 43.40
- Standard deviation of sample read depth (HGVD)
- 23.13
- Number of reference allele (HGVD)
- 1486
- Number of alternative allele (HGVD)
- 912
- Allele Frequency (HGVD)
- 0.3803169307756464
- Gene Symbol (HGVD)
- DIO2
- 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))
- rs225014
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3671
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6153
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 7596
- East Asian Allele Counts (ExAC)
- 3477
- East Asian Heterozygous Counts (ExAC)
- 2031
- East Asian Homozygous Counts (ExAC)
- 723
- East Asian Allele Frequency (ExAC)
- 0.457740916271722
- Chromosome Counts in All Race (ExAC)
- 103290
- Allele Counts in All Race (ExAC)
- 45035
- Heterozygous Counts in All Race (ExAC)
- 26153
- Homozygous Counts in All Race (ExAC)
- 9441
- Allele Frequency in All Race (ExAC)
- 0.4360054216284248
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