chr6:31572364:A>C Detail (hg38) (LTA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:31,540,141-31,540,141 View the variant detail on this assembly version. |
hg38 | chr6:31,572,364-31,572,364 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000595.3:c.-92A>C | |
Ensemble | ENST00000418386.3:c.-92A>C | |
ENST00000454783.5:c.-10+62A>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.583 | |
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 |
---|---|---|---|---|---|
0.050 | Lymphoma, Non-Hodgkin | A haplotype comprising SNPs in two proinflammatory cytokines, tumor necrosis fac... | BeFree | 17018637 | Detail |
0.026 | Lymphoma, Non-Hodgkin | A haplotype comprising SNPs in two proinflammatory cytokines, tumor necrosis fac... | BeFree | 17018637 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
A haplotype comprising SNPs in two proinflammatory cytokines, tumor necrosis factor-alpha and lympho... | DisGeNET | Detail |
A haplotype comprising SNPs in two proinflammatory cytokines, tumor necrosis factor-alpha and lympho... | 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
- rs2239704 dbSNP
- Genome
- hg38
- Position
- chr6:31,572,364-31,572,364
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs2239704
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5826
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9760
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16752
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