chr11:102530930:T>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:102,401,661-102,401,661 View the variant detail on this assembly version. |
| hg38 | chr11:102,530,930-102,530,930 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.068 | |
| 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 |
|---|---|---|---|---|---|
| 0.006 | Tumor Progression | The -181A→G (rs11568818) polymorphism in the MMP7 promoter modulates gene expres... | BeFree | 25847246 | Detail |
| <0.001 | Nodule | The high MMP-7 expression in nodules was associated with the single-nucleotide p... | BeFree | 23343931 | Detail |
| 0.011 | coronary artery disease | We explored the association of MMP2 (C-735T, rs2285053), MMP7 (A-181G, rs1156881... | BeFree | 22664146 | Detail |
| 0.125 | Malignant neoplasm of prostate | Identification of 23 new prostate cancer susceptibility loci using the iCOGS cus... | GWASCAT | 23535732 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The -181A→G (rs11568818) polymorphism in the MMP7 promoter modulates gene expression and possibly af... | DisGeNET | Detail |
| The high MMP-7 expression in nodules was associated with the single-nucleotide polymorphism (SNP) rs... | DisGeNET | Detail |
| We explored the association of MMP2 (C-735T, rs2285053), MMP7 (A-181G, rs11568818) and MMP9 (R279Q, ... | DisGeNET | Detail |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs11568818 dbSNP
- Genome
- hg38
- Position
- chr11:102,530,930-102,530,930
- 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))
- rs11568818
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0679
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1138
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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