chr11:116792991:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr11:116,663,707-116,663,707 View the variant detail on this assembly version.
hg38 chr11:116,792,991-116,792,991

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.647
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.171 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P < 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
0.004 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
<0.001 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
0.004 Metabolic syndrome X Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): ... BeFree 25646961 Detail
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
0.126 coronary artery disease CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7... BeFree 23050023 Detail
0.125 coronary artery disease CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7... BeFree 23050023 Detail
0.019 obesity In current study two SNPs rs662799 risk allele G (P = 0.03) and rs3135506 risk a... BeFree 24402875 Detail
0.005 HIV Infections In conclusion, polymorphisms in genes associated to the development of atherogen... BeFree 25500319 Detail
0.003 Hypertensive disease Association of APOA5 rs662799 and rs3135506 polymorphisms with arterial hyperten... BeFree 24684850 Detail
0.009 Cerebrovascular accident This pool of samples was previously investigated for haplotype tagging minor all... BeFree 20158509 Detail
0.171 Metabolic syndrome X Effects of APOA5 -1131T&gt;C (rs662799) on fasting plasma lipids and risk of met... BeFree 23468858 Detail
0.171 Metabolic syndrome X Genetic variants of apolipoprotein A5 T-1131C and apolipoprotein E common polymo... BeFree 24709297 Detail
0.009 Cerebrovascular accident Thereby, the 56G allele differs from the APOA5 T-1131C allelic variant, which ha... BeFree 18274806 Detail
0.032 Metabolic syndrome X Genetic variants of apolipoprotein A5 T-1131C and apolipoprotein E common polymo... BeFree 24709297 Detail
0.171 Metabolic syndrome X Apolipoprotein A5 gene -1131T/C polymorphism is associated with the risk of meta... BeFree 19055447 Detail
0.031 Coronary heart disease APOA5 -1131T/C polymorphism is associated with coronary artery disease in a Chin... BeFree 21143013 Detail
0.031 Coronary heart disease We assessed the -1131T&gt;C (rs662799) promoter polymorphism of the apolipoprote... BeFree 20452521 Detail
0.025 Cardiovascular Diseases The T-1131C variant of the apolipoprotein A5 gene, associated with increased tri... BeFree 18159097 Detail
0.004 Ischemic stroke Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elev... BeFree 16954607 Detail
0.139 coronary artery disease APOA5 -1131T/C polymorphism is associated with coronary artery disease in a Chin... BeFree 21143013 Detail
0.171 Metabolic syndrome X Apolipoprotein A5 T-1131C variant and risk for metabolic syndrome in obese adole... BeFree 24161374 Detail
0.034 Coronary Arteriosclerosis We assessed the -1131T&gt;C (rs662799) promoter polymorphism of the apolipoprote... BeFree 20452521 Detail
0.171 Metabolic syndrome X Apolipoprotein A5 T-1131C variant confers risk for metabolic syndrome. BeFree 17922054 Detail
0.002 Ischemic Cerebrovascular Accident Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elev... BeFree 16954607 Detail
0.019 obesity Apolipoprotein A5 T-1131C variant and risk for metabolic syndrome in obese adole... BeFree 24161374 Detail
0.034 Coronary Arteriosclerosis APOA5 -1131T/C polymorphism is associated with coronary artery disease in a Chin... BeFree 21143013 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
0.018 Diabetes Mellitus, Non-Insulin-Dependent APOA5 -1131T/C polymorphism was shown to be significantly associated with of typ... BeFree 23922971 Detail
0.139 coronary artery disease The Apolipoprotein A5 (APO A5) -1131T/C, fibrinogen β (FgB) -455G/A, -148C/T, an... BeFree 23129316 Detail
Annotation

Annotations

DescrptionSourceLinks
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
Of these SNPs, five SNPs were significantly associated with MetS (P &lt; 0.05): LRP2 rs2544390, rs18... DisGeNET Detail
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
CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs... DisGeNET Detail
CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs... DisGeNET Detail
In current study two SNPs rs662799 risk allele G (P = 0.03) and rs3135506 risk allele C (P = 0.05) o... DisGeNET Detail
In conclusion, polymorphisms in genes associated to the development of atherogenic dyslipidemia, esp... DisGeNET Detail
Association of APOA5 rs662799 and rs3135506 polymorphisms with arterial hypertension in Moroccan pat... DisGeNET Detail
This pool of samples was previously investigated for haplotype tagging minor alleles of apolipoprote... DisGeNET Detail
Effects of APOA5 -1131T&gt;C (rs662799) on fasting plasma lipids and risk of metabolic syndrome: evi... DisGeNET Detail
Genetic variants of apolipoprotein A5 T-1131C and apolipoprotein E common polymorphisms and their re... DisGeNET Detail
Thereby, the 56G allele differs from the APOA5 T-1131C allelic variant, which has been previously id... DisGeNET Detail
Genetic variants of apolipoprotein A5 T-1131C and apolipoprotein E common polymorphisms and their re... DisGeNET Detail
Apolipoprotein A5 gene -1131T/C polymorphism is associated with the risk of metabolic syndrome in et... DisGeNET Detail
APOA5 -1131T/C polymorphism is associated with coronary artery disease in a Chinese population: a me... DisGeNET Detail
We assessed the -1131T&gt;C (rs662799) promoter polymorphism of the apolipoprotein A5 (APOA5) gene i... DisGeNET Detail
The T-1131C variant of the apolipoprotein A5 gene, associated with increased triglycerides, has been... DisGeNET Detail
Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elevated circulating tri... DisGeNET Detail
APOA5 -1131T/C polymorphism is associated with coronary artery disease in a Chinese population: a me... DisGeNET Detail
Apolipoprotein A5 T-1131C variant and risk for metabolic syndrome in obese adolescents. DisGeNET Detail
We assessed the -1131T&gt;C (rs662799) promoter polymorphism of the apolipoprotein A5 (APOA5) gene i... DisGeNET Detail
Apolipoprotein A5 T-1131C variant confers risk for metabolic syndrome. DisGeNET Detail
Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elevated circulating tri... DisGeNET Detail
Apolipoprotein A5 T-1131C variant and risk for metabolic syndrome in obese adolescents. DisGeNET Detail
APOA5 -1131T/C polymorphism is associated with coronary artery disease in a Chinese population: a me... 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
APOA5 -1131T/C polymorphism was shown to be significantly associated with of type 2 diabetes (T2D, O... DisGeNET Detail
The Apolipoprotein A5 (APO A5) -1131T/C, fibrinogen β (FgB) -455G/A, -148C/T, and cholesteryl ester ... DisGeNET Detail
Gene
-
dbSNP
rs662799 dbSNP
Genome
hg38
Position
chr11:116,792,991-116,792,991
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs662799
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6474
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10849
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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