chr6:160559298:T>C Detail (hg38) (LPA)

Information

Genome

Assembly Position
hg19 chr6:160,980,330-160,980,330 View the variant detail on this assembly version.
hg38 chr6:160,559,298-160,559,298

HGVS

Type Transcript Protein
RefSeq NM_005577.2:c.4632-1727A>G
Ensemble ENST00000316300.10:c.4632-1727A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.891
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
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 tgv27711060 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.150 coronary artery disease Genetic variants in the rs3798220, rs10455872 and rs6415084 single-nucleotide po... BeFree 23978127 Detail
Annotation

Annotations

DescrptionSourceLinks
Genetic variants in the rs3798220, rs10455872 and rs6415084 single-nucleotide polymorphisms (SNPs) i... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6415084 dbSNP
Genome
hg38
Position
chr6:160,559,298-160,559,298
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs6415084
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8913
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14938
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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