chr10:44258419:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr10:44,753,867-44,753,867 View the variant detail on this assembly version.
hg38 chr10:44,258,419-44,258,419

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.337
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
<0.001 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
0.004 Coronary Arteriosclerosis Because previous genome-wide association studies demonstrated an association bet... BeFree 22386691 Detail
0.001 Cardiovascular Diseases Lack of association between the CXCL12 rs501120 polymorphism and cardiovascular ... BeFree 22386691 Detail
0.007 Coronary heart disease Because previous genome-wide association studies demonstrated an association bet... BeFree 22386691 Detail
0.015 rheumatoid arthritis Lack of association between the CXCL12 rs501120 polymorphism and cardiovascular ... BeFree 22386691 Detail
0.127 coronary artery disease Because previous genome-wide association studies demonstrated an association bet... BeFree 22386691 Detail
0.010 atherosclerosis In conclusion, our results do not confirm an association of the CXCL12 rs501120 ... BeFree 22386691 Detail
0.007 Coronary heart disease [We identified several genetic loci that, individually and in aggregate, substan... GAD 17634449 Detail
0.002 arteriosclerosis In conclusion, our results do not confirm an association of the CXCL12 rs501120 ... BeFree 22386691 Detail
0.002 Coronary heart disease [We identified several genetic loci that, individually and in aggregate, substan... GAD 17634449 Detail
<0.001 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.007 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.123 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.123 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.126 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
0.005 Coronary heart disease The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757... BeFree 21804106 Detail
Annotation

Annotations

DescrptionSourceLinks
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
Because previous genome-wide association studies demonstrated an association between CXCL12 rs501120... DisGeNET Detail
Lack of association between the CXCL12 rs501120 polymorphism and cardiovascular disease in Spanish p... DisGeNET Detail
Because previous genome-wide association studies demonstrated an association between CXCL12 rs501120... DisGeNET Detail
Lack of association between the CXCL12 rs501120 polymorphism and cardiovascular disease in Spanish p... DisGeNET Detail
Because previous genome-wide association studies demonstrated an association between CXCL12 rs501120... DisGeNET Detail
In conclusion, our results do not confirm an association of the CXCL12 rs501120 polymorphism with at... DisGeNET Detail
[We identified several genetic loci that, individually and in aggregate, substantially affect the ri... DisGeNET Detail
In conclusion, our results do not confirm an association of the CXCL12 rs501120 polymorphism with at... DisGeNET Detail
[We identified several genetic loci that, individually and in aggregate, substantially affect the ri... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
The Ch9p21 SNPs rs1333049 (OR 1.17; 95% confidence limits 1.11-1.24) and rs10757274 (OR 1.17; 1.09-1... DisGeNET Detail
Gene
-
dbSNP
rs501120 dbSNP
Genome
hg38
Position
chr10:44,258,419-44,258,419
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))
rs501120
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3369
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5646
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser