chr14:80211923:C>T Detail (hg38) (DIO2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:80,678,266-80,678,266 View the variant detail on this assembly version. |
hg38 | chr14:80,211,923-80,211,923 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000793.5:c.-53-398G>A | |
Ensemble | ENST00000557010.5:c.-53-398G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.146 | |
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 | Osteoarthritis of hip | Confirmation and replication by association in the additional osteoarthritis stu... | BeFree | 18334578 | Detail |
<0.001 | Osteoarthritis of hip | We observed a significant interaction between carrier status of DIO2 rs12885300 ... | BeFree | 21400473 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Confirmation and replication by association in the additional osteoarthritis studies indicated a com... | DisGeNET | Detail |
We observed a significant interaction between carrier status of DIO2 rs12885300 and hip OA character... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs12885300 dbSNP
- Genome
- hg38
- Position
- chr14:80,211,923-80,211,923
- 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))
- rs12885300
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1457
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2441
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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