chr5:95762477:A>G Detail (hg19) (PCSK1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:95,762,477-95,762,477 |
| hg38 | chr5:96,426,773-96,426,773 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000439.4:c.286-843T>C | |
| NM_001177875.1:c.145-843T>C | ||
| Ensemble | ENST00000311106.8:c.286-843T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.198 | |
| 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 |
|---|---|---|---|---|---|
| 0.097 | Diabetes Mellitus, Non-Insulin-Dependent | Single nucleotide polymorphisms (SNPs) in PCSK1, namely, rs6234, rs6235, and rs2... | BeFree | 24964673 | Detail |
| 0.340 | Diabetes Mellitus, Non-Insulin-Dependent | A case-control study was performed in Han Chinese subjects with normal control (... | BeFree | 21437630 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Single nucleotide polymorphisms (SNPs) in PCSK1, namely, rs6234, rs6235, and rs271939 have been link... | DisGeNET | Detail |
| A case-control study was performed in Han Chinese subjects with normal control (n=152) and T2DM (n=2... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3811951 dbSNP
- Genome
- hg19
- Position
- chr5:95,762,477-95,762,477
- 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))
- rs3811951
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1982
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3322
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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