chr1:109822166:G>A Detail (hg19)

Information

Genome

Assembly Position
hg19 chr1:109,822,166-109,822,166
hg38 chr1:109,279,544-109,279,544 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.927
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
0.004 Coronary heart disease SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as tota... BeFree 21804106 Detail
0.182 Coronary heart disease SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as tota... BeFree 21804106 Detail
0.065 Coronary heart disease SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as tota... BeFree 21804106 Detail
0.003 Coronary heart disease SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as tota... BeFree 21804106 Detail
<0.001 Coronary heart disease The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRR... BeFree 19955471 Detail
<0.001 Coronary heart disease The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRR... BeFree 19955471 Detail
0.125 coronary artery disease CAD association was replicated for three GWAS-identified loci (1p13.3/SORT1 (rs5... BeFree 23364394 Detail
0.003 myocardial infarction Association of the single nucleotide polymorphism rs599839 in the vicinity of th... BeFree 19837406 Detail
0.128 Coronary heart disease [We identified several genetic loci that, individually and in aggregate, substan... GAD 17634449 Detail
0.128 Coronary heart disease Large-scale association analysis identifies 13 new susceptibility loci for coron... GWASCAT 21378990 Detail
0.128 Coronary heart disease Genomewide association analysis of coronary artery disease. GWASCAT 17634449 Detail
0.125 coronary artery disease The rs599839 polymorphism A/G in the vicinity of the sortilin 1 gene has been re... BeFree 19837406 Detail
0.128 Coronary heart disease [Association of single nucleotide polymorphism rs599839 on chromosome 1p13.3 wit... GAD 19065533 Detail
0.002 Heart Diseases [Association of the single nucleotide polymorphism rs599839 in the vicinity of t... GAD 19837406 Detail
0.015 coronary artery disease [Large-scale association analysis identifies 13 new susceptibility loci for coro... GAD 21378990 Detail
<0.001 Vascular Diseases Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk i... BeFree 24251769 Detail
<0.001 Vascular Diseases Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk i... BeFree 24251769 Detail
Annotation

Annotations

DescrptionSourceLinks
SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as total- and LDL-cholester... DisGeNET Detail
SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as total- and LDL-cholester... DisGeNET Detail
SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as total- and LDL-cholester... DisGeNET Detail
SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as total- and LDL-cholester... DisGeNET Detail
The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRRs were 1.10 (P = 0.0... DisGeNET Detail
The results showed that 3 SNPs in whites (rs599839, rs1333049, and rs501120; HRRs were 1.10 (P = 0.0... DisGeNET Detail
CAD association was replicated for three GWAS-identified loci (1p13.3/SORT1 (rs599839), 9p21.3/CDKN2... DisGeNET Detail
Association of the single nucleotide polymorphism rs599839 in the vicinity of the sortilin 1 gene wi... DisGeNET Detail
[We identified several genetic loci that, individually and in aggregate, substantially affect the ri... DisGeNET Detail
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. DisGeNET Detail
Genomewide association analysis of coronary artery disease. DisGeNET Detail
The rs599839 polymorphism A/G in the vicinity of the sortilin 1 gene has been reported to be associa... DisGeNET Detail
[Association of single nucleotide polymorphism rs599839 on chromosome 1p13.3 with premature coronary... DisGeNET Detail
[Association of the single nucleotide polymorphism rs599839 in the vicinity of the sortilin 1 gene w... DisGeNET Detail
[Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.... DisGeNET Detail
Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general popula... DisGeNET Detail
Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general popula... DisGeNET Detail
Gene
-
dbSNP
rs599839 dbSNP
Genome
hg19
Position
chr1:109,822,166-109,822,166
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))
rs599839
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9268
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15533
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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