chr19:29573489:A>G Detail (hg38)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:30,064,396-30,064,396 View the variant detail on this assembly version. |
hg38 | chr19:29,573,489-29,573,489 |
HGVS
[No Data.]
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:1.000 | |
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 |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Coronary heart disease | The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRR... | BeFree | 19955471 | Detail |
<0.001 | Coronary heart disease | The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRR... | BeFree | 19955471 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRRs were 1.10 (P = 0.0... | DisGeNET | Detail |
The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRRs were 1.10 (P = 0.0... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs7250581 dbSNP
- Genome
- hg38
- Position
- chr19:29,573,489-29,573,489
- 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))
- rs7250581
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9998
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16757
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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