chr7:45932600:C>T Detail (hg19) (IGFBP1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:45,932,600-45,932,600 |
hg38 | chr7:45,893,001-45,893,001 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000596.2:c.690C>T | NP_000587.1:p.Cys230= |
Ensemble | ENST00000275525.8:c.690C>T | ENST00000275525.8:p.Cys230= |
ENST00000457280.5:c.684C>T | ENST00000457280.5:p.Cys228= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.004 |
ToMMo:0.002 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.004 |
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 | Malignant neoplasm of ovary | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and... | BeFree | 19858071 | Detail |
0.001 | ovarian carcinoma | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and... | BeFree | 19858071 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were ass... | DisGeNET | Detail |
When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were ass... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg19
- Position
- chr7:45,932,600-45,932,600
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 940
- Mean of sample read depth (HGVD)
- 20.67
- Standard deviation of sample read depth (HGVD)
- 13.83
- Number of reference allele (HGVD)
- 1873
- Number of alternative allele (HGVD)
- 7
- Allele Frequency (HGVD)
- 0.003723404255319149
- Gene Symbol (HGVD)
- IGFBP1
- 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))
- rs4988515
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0023
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 39
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 33
- East Asian Heterozygous Counts (ExAC)
- 33
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0038141470180305132
- Chromosome Counts in All Race (ExAC)
- 121360
- Allele Counts in All Race (ExAC)
- 7892
- Heterozygous Counts in All Race (ExAC)
- 7070
- Homozygous Counts in All Race (ExAC)
- 411
- Allele Frequency in All Race (ExAC)
- 0.06502966381015161
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