chr7:95324637:T>C Detail (hg38) (PON1, LOC129998829)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:94,953,949-94,953,949 View the variant detail on this assembly version. |
| hg38 | chr7:95,324,637-95,324,637 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.887 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2021-06-19 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.125 | Hypercholesterolemia, Familial | In 187 patients with familial hypercholesterolemia, we studied the seven most co... | BeFree | 15642273 | Detail |
| 0.003 | IgA glomerulonephritis | The aim was to test whether polymorphisms in the PON1 coding region (Q192R and L... | BeFree | 17173245 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000007.14:g.95324637T>C AND not provided | ClinVar | Detail |
| In 187 patients with familial hypercholesterolemia, we studied the seven most common single nucleoti... | DisGeNET | Detail |
| The aim was to test whether polymorphisms in the PON1 coding region (Q192R and L55M) and its promote... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs705381 dbSNP
- Genome
- hg38
- Position
- chr7:95,324,637-95,324,637
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs705381
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8875
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14873
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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