chr12:102874864:A>G Detail (hg19) (IGF1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:102,874,864-102,874,864 |
| hg38 | chr12:102,481,086-102,481,086 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000644491.1:c.-20+617T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.303 | |
| 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 | Polyp of large intestine | We examined the risk of colorectal polyps in relation to body size factors and c... | BeFree | 20580999 | Detail |
| <0.001 | Polyp of large intestine | We examined the risk of colorectal polyps in relation to body size factors and c... | BeFree | 20580999 | Detail |
| <0.001 | Adolescent idiopathic scoliosis | This study revealed that the SNPs of rs2449539 in lysosomal-associated transmemb... | BeFree | 23364988 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We examined the risk of colorectal polyps in relation to body size factors and candidate polymorphis... | DisGeNET | Detail |
| We examined the risk of colorectal polyps in relation to body size factors and candidate polymorphis... | DisGeNET | Detail |
| This study revealed that the SNPs of rs2449539 in lysosomal-associated transmembrane protein 4 beta ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs5742612 dbSNP
- Genome
- hg19
- Position
- chr12:102,874,864-102,874,864
- 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))
- rs5742612
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3035
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5086
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser