chr5:96426773:A>G Detail (hg38) (PCSK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr5:95,762,477-95,762,477 View the variant detail on this assembly version. |
hg38 | chr5:96,426,773-96,426,773 |
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
- hg38
- Position
- chr5:96,426,773-96,426,773
- 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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