chr11:17440473:A>G Detail (hg19) (ABCC8)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:17,440,473-17,440,473 |
hg38 | chr11:17,418,926-17,418,926 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001287174.1:c.2223-1961T>C | |
NM_000352.4:c.2223-1964T>C | ||
Ensemble | ENST00000647015.1:c.1971-1961T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.877 | |
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 | Metabolic syndrome X | For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs15700... | BeFree | 25867398 | Detail |
0.003 | Metabolic syndrome X | For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs15700... | BeFree | 25867398 | Detail |
0.003 | Metabolic syndrome X | For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs15700... | BeFree | 25867398 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs91... | DisGeNET | Detail |
For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs91... | DisGeNET | Detail |
For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs91... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs916829 dbSNP
- Genome
- hg19
- Position
- chr11:17,440,473-17,440,473
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs916829
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8765
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14688
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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