chr1:53266643:G>T Detail (hg38) (LRP8)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:53,732,315-53,732,315 View the variant detail on this assembly version. |
hg38 | chr1:53,266,643-53,266,643 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004631.4:c.1257C>A | NP_004622.2:p.Gly419= |
NM_033300.3:c.747C>A | NP_150643.2:p.Gly249= | |
NM_017522.4:c.870C>A | NP_059992.3:p.Gly290= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.655 |
ToMMo:0.637 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.644 |
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 |
---|---|---|---|---|---|
0.003 | schizophrenia | HIMS replication analysis supported rs439401 (APOE regulatory region), and rs229... | BeFree | 22419519 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
HIMS replication analysis supported rs439401 (APOE regulatory region), and rs2297660 and rs3737983 (... | 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
- hg38
- Position
- chr1:53,266,643-53,266,643
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 924
- Mean of sample read depth (HGVD)
- 17.54
- Standard deviation of sample read depth (HGVD)
- 13.86
- Number of reference allele (HGVD)
- 638
- Number of alternative allele (HGVD)
- 1210
- Allele Frequency (HGVD)
- 0.6547619047619048
- Gene Symbol (HGVD)
- LRP8
- 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))
- rs2297660
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6366
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10670
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8634
- East Asian Allele Counts (ExAC)
- 5564
- East Asian Heterozygous Counts (ExAC)
- 2014
- East Asian Homozygous Counts (ExAC)
- 1775
- East Asian Allele Frequency (ExAC)
- 0.6444290016214964
- Chromosome Counts in All Race (ExAC)
- 121286
- Allele Counts in All Race (ExAC)
- 46060
- Heterozygous Counts in All Race (ExAC)
- 26852
- Homozygous Counts in All Race (ExAC)
- 9604
- Allele Frequency in All Race (ExAC)
- 0.3797635341259502
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