chr11:116778201:G>C Detail (hg38) (ZPR1)

Information

Genome

Assembly Position
hg19 chr11:116,648,917-116,648,917 View the variant detail on this assembly version.
hg38 chr11:116,778,201-116,778,201

HGVS

Type Transcript Protein
RefSeq NM_003904.4:c.*724C>G
Ensemble ENST00000227322.8:c.*724C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.726
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 603901 OMIM
HGNC 13051 HGNC
Ensembl ENSG00000109917 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44156375 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
0.005 coronary artery disease Three prevalent single nucleotide polymorphisms (SNPs; rs1412444(LIPA), rs662799... BeFree 26731984 Detail
0.139 coronary artery disease Three prevalent single nucleotide polymorphisms (SNPs; rs1412444(LIPA), rs662799... BeFree 26731984 Detail
<0.001 acute myocardial infarction Only two SNPs, rs662799 (APOA5) and rs964184 (ZNF259) found at two independent l... BeFree 26731984 Detail
<0.001 acute myocardial infarction Only two SNPs, rs662799 (APOA5) and rs964184 (ZNF259) found at two independent l... BeFree 26731984 Detail
0.005 coronary artery disease [Large-scale association analysis identifies 13 new susceptibility loci for coro... GAD 21378990 Detail
0.125 Metabolic syndrome X [Our findings suggest that genes from lipid metabolism pathways have the key rol... GAD 22399527 Detail
0.122 Hypertriglyceridemia Excess of rare variants in genes identified by genome-wide association study of ... GWASCAT 20657596 Detail
0.122 Hypertriglyceridemia [Excess of rare variants in genes identified by genome-wide association study of... GAD 20657596 Detail
0.121 Coronary heart disease MG 18∶2 showed an enrichment (P-value = 0.002) of significant associations with ... BeFree 25502724 Detail
<0.001 prostate carcinoma An SNP (rs964184) near budding-site selection protein 13 (yeast) (BUD13), zinc f... BeFree 24623848 Detail
0.122 Hypertriglyceridemia result Excess of rare variants in genes identified by genome-wide association study of ... GWASCAT 20657596 Detail
0.088 Metabolic syndrome X A previously known lipid locus, APOA1/C3/A4/A5 gene cluster region (SNP rs964184... BeFree 22399527 Detail
0.122 Hypertriglyceridemia result Genomic study in Mexicans identifies a new locus for triglycerides and refines E... GWASCAT 23505323 Detail
0.121 Coronary heart disease Large-scale association analysis identifies 13 new susceptibility loci for coron... GWASCAT 21378990 Detail
0.031 Coronary heart disease MG 18∶2 showed an enrichment (P-value = 0.002) of significant associations with ... BeFree 25502724 Detail
<0.001 Malignant neoplasm of prostate An SNP (rs964184) near budding-site selection protein 13 (yeast) (BUD13), zinc f... BeFree 24623848 Detail
0.125 Metabolic syndrome X Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lip... GWASCAT 22399527 Detail
0.122 Hypertriglyceridemia result [Excess of rare variants in genes identified by genome-wide association study of... GAD 20657596 Detail
0.122 Hypertriglyceridemia Genomic study in Mexicans identifies a new locus for triglycerides and refines E... GWASCAT 23505323 Detail
<0.001 Hypercholesterolemia The ZNF259 rs2075290, ZNF259 rs964184 and BUD13 rs10790162 SNPs were significant... BeFree 24780069 Detail
Annotation

Annotations

DescrptionSourceLinks
Three prevalent single nucleotide polymorphisms (SNPs; rs1412444(LIPA), rs662799(APOA5) and rs964184... DisGeNET Detail
Three prevalent single nucleotide polymorphisms (SNPs; rs1412444(LIPA), rs662799(APOA5) and rs964184... DisGeNET Detail
Only two SNPs, rs662799 (APOA5) and rs964184 (ZNF259) found at two independent loci, were associated... DisGeNET Detail
Only two SNPs, rs662799 (APOA5) and rs964184 (ZNF259) found at two independent loci, were associated... DisGeNET Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... DisGeNET Detail
[Our findings suggest that genes from lipid metabolism pathways have the key role in the genetic bac... DisGeNET Detail
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia... DisGeNET Detail
[Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemi... DisGeNET Detail
MG 18∶2 showed an enrichment (P-value = 0.002) of significant associations with CHD-associated SNPs ... DisGeNET Detail
An SNP (rs964184) near budding-site selection protein 13 (yeast) (BUD13), zinc finger protein 259 (Z... DisGeNET Detail
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia... DisGeNET Detail
A previously known lipid locus, APOA1/C3/A4/A5 gene cluster region (SNP rs964184), was associated wi... DisGeNET Detail
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. DisGeNET Detail
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. DisGeNET Detail
MG 18∶2 showed an enrichment (P-value = 0.002) of significant associations with CHD-associated SNPs ... DisGeNET Detail
An SNP (rs964184) near budding-site selection protein 13 (yeast) (BUD13), zinc finger protein 259 (Z... DisGeNET Detail
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution... DisGeNET Detail
[Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemi... DisGeNET Detail
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. DisGeNET Detail
The ZNF259 rs2075290, ZNF259 rs964184 and BUD13 rs10790162 SNPs were significantly associated with s... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs964184 dbSNP
Genome
hg38
Position
chr11:116,778,201-116,778,201
Variant Type
snv
Reference Allele
G
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))
rs964184
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.726
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12166
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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