chr6:160589086:A>G Detail (hg38) (LPA)

Information

Genome

Assembly Position
hg19 chr6:161,010,118-161,010,118 View the variant detail on this assembly version.
hg38 chr6:160,589,086-160,589,086

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 152200 OMIM
HGNC 6667 HGNC
Ensembl ENSG00000198670 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv204427084 TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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
hg38
Position
chr6:160,589,086-160,589,086
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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