chr11:2135814:C>G Detail (hg38) (IGF2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:2,157,044-2,157,044 View the variant detail on this assembly version. |
| hg38 | chr11:2,135,814-2,135,814 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001291862.2:c.-6-285G>C | |
| NM_001291861.2:c.-6-285G>C | ||
| NM_000612.5:c.-6-285G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.308 | |
| 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 | Muscle damage | The most significant finding in this study was that for men, IGF-II (C13790G, rs... | BeFree | 17289909 | Detail |
| <0.001 | Muscle damage | The most significant finding in this study was that for men, IGF-II (C13790G, rs... | BeFree | 17289909 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The most significant finding in this study was that for men, IGF-II (C13790G, rs3213221), IGF-II (Ap... | DisGeNET | Detail |
| The most significant finding in this study was that for men, IGF-II (C13790G, rs3213221), IGF-II (Ap... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3213221 dbSNP
- Genome
- hg38
- Position
- chr11:2,135,814-2,135,814
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs3213221
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3077
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5156
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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