chr6:161010118:A>G Detail (hg19) (LPA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:161,010,118-161,010,118 |
| hg38 | chr6:160,589,086-160,589,086 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005577.2:c.3947+467T>C | |
| Ensemble | ENST00000316300.10:c.3947+467T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Benign
|
2020-08-07 | no assertion criteria provided | LIPOPROTEIN(a) POLYMORPHISM |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.004 | diabetes mellitus | Lp(a) concentrations, apo(a) phenotypes, and one SNP in the LPA gene (rs10455872... | BeFree | 24760552 | Detail |
| <0.001 | aortic valve stenosis | The rs10455872 genetic variant in LPA was genotyped in 14 735 study participants... | BeFree | 24704946 | Detail |
| 0.005 | coronary artery disease | The LPA single-nucleotide polymorphism rs10455872 has been associated with low-d... | BeFree | 23903772 | Detail |
| 0.272 | Coronary heart disease | Extreme lipoprotein(a) levels or corresponding LPA KIV-2/rs10455872 risk genotyp... | BeFree | 23375930 | Detail |
| 0.120 | Aortic valve calcification | Genetic variation in the LPA locus, mediated by Lp(a) levels, is associated with... | GWASCAT | 23388002 | Detail |
| <0.001 | intermittent claudication | Lp(a) concentrations, apo(a) phenotypes, and one SNP in the LPA gene (rs10455872... | BeFree | 24760552 | Detail |
| <0.001 | aortic valve disease 2 | The rs10455872 genetic variant in LPA was genotyped in 14 735 study participants... | BeFree | 24704946 | Detail |
| <0.001 | Diabetes | Lp(a) concentrations, apo(a) phenotypes, and one SNP in the LPA gene (rs10455872... | BeFree | 24760552 | Detail |
| 0.150 | coronary artery disease | In conclusion, heritable contributions of LPA rs10455872 and rs3798220 to Lp(a) ... | BeFree | 23735648 | Detail |
| 0.150 | coronary artery disease | We confirmed the association of the LPA rs10455872 with CAD in a large sample of... | BeFree | 24776095 | Detail |
| 0.150 | coronary artery disease | Genetic variants in the rs3798220, rs10455872 and rs6415084 single-nucleotide po... | BeFree | 23978127 | Detail |
| <0.001 | Calcific stenosis | It is possible to conclude that apoB (XbaI, rs1042031, and rs6725189), ACE (rs43... | BeFree | 24903972 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005577.4(LPA):c.3947+467T>C AND LIPOPROTEIN(a) POLYMORPHISM | ClinVar | Detail |
| Lp(a) concentrations, apo(a) phenotypes, and one SNP in the LPA gene (rs10455872) were measured in t... | DisGeNET | Detail |
| The rs10455872 genetic variant in LPA was genotyped in 14 735 study participants, who simultaneously... | DisGeNET | Detail |
| The LPA single-nucleotide polymorphism rs10455872 has been associated with low-density lipoprotein c... | DisGeNET | Detail |
| Extreme lipoprotein(a) levels or corresponding LPA KIV-2/rs10455872 risk genotypes substantially imp... | DisGeNET | Detail |
| Genetic variation in the LPA locus, mediated by Lp(a) levels, is associated with aortic-valve calcif... | DisGeNET | Detail |
| Lp(a) concentrations, apo(a) phenotypes, and one SNP in the LPA gene (rs10455872) were measured in t... | DisGeNET | Detail |
| The rs10455872 genetic variant in LPA was genotyped in 14 735 study participants, who simultaneously... | DisGeNET | Detail |
| Lp(a) concentrations, apo(a) phenotypes, and one SNP in the LPA gene (rs10455872) were measured in t... | DisGeNET | Detail |
| In conclusion, heritable contributions of LPA rs10455872 and rs3798220 to Lp(a) cholesterol levels a... | DisGeNET | Detail |
| We confirmed the association of the LPA rs10455872 with CAD in a large sample of Brazilian patients. | DisGeNET | Detail |
| Genetic variants in the rs3798220, rs10455872 and rs6415084 single-nucleotide polymorphisms (SNPs) i... | DisGeNET | Detail |
| It is possible to conclude that apoB (XbaI, rs1042031, and rs6725189), ACE (rs4340), IL10 (rs1800896... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10455872 dbSNP
- Genome
- hg19
- Position
- chr6:161,010,118-161,010,118
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser