chr14:102799329:G>A Detail (hg38) (TRAF3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:103,265,666-103,265,666 View the variant detail on this assembly version. |
hg38 | chr14:102,799,329-102,799,329 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001199427.1:c.-18+21654G>A | |
NM_003300.3:c.-18+21654G>A | ||
Ensemble | ENST00000351691.10:c.-157+21654G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.402 | |
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 |
---|---|---|---|---|---|
0.004 | multiple myeloma | Single nucleotide polymorphisms in the TRAF3 rs12147254 A allele and a specific ... | BeFree | 21228035 | Detail |
<0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | With the aim to conclusively validate the strongest associations so far reported... | BeFree | 24521996 | Detail |
<0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | With the aim to conclusively validate the strongest associations so far reported... | BeFree | 24521996 | Detail |
<0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | With the aim to conclusively validate the strongest associations so far reported... | BeFree | 24521996 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Single nucleotide polymorphisms in the TRAF3 rs12147254 A allele and a specific haplotype 1 of TRAF3... | DisGeNET | Detail |
With the aim to conclusively validate the strongest associations so far reported, we selected the po... | DisGeNET | Detail |
With the aim to conclusively validate the strongest associations so far reported, we selected the po... | DisGeNET | Detail |
With the aim to conclusively validate the strongest associations so far reported, we selected the po... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs12147254 dbSNP
- Genome
- hg38
- Position
- chr14:102,799,329-102,799,329
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs12147254
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4016
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6730
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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