chr1:159714875:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:159,684,665-159,684,665 View the variant detail on this assembly version.
hg38 chr1:159,714,875-159,714,875

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.071
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 Fatigue The associations between fatigue and SNPs in inflammation-related genes; IL1β (r... BeFree 21496483 Detail
0.400 obesity Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313,... BeFree 24762112 Detail
0.151 obesity Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313,... BeFree 24762112 Detail
0.025 Senile Plaques In multivariate analyses (age- and APOE-adjusted), non-neuritic SP were associat... BeFree 21831326 Detail
0.004 Aortic Aneurysm, Abdominal C-reactive protein polymorphism rs3091244 is associated with abdominal aortic an... BeFree 24135623 Detail
Annotation

Annotations

DescrptionSourceLinks
The associations between fatigue and SNPs in inflammation-related genes; IL1β (rs16944), IL6 (rs1800... DisGeNET Detail
Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313, and TMEM18 rs654823... DisGeNET Detail
Using the three obesity-associated polymorphisms FTO rs9939609, MC4R rs17782313, and TMEM18 rs654823... DisGeNET Detail
In multivariate analyses (age- and APOE-adjusted), non-neuritic SP were associated with the high-CRP... DisGeNET Detail
C-reactive protein polymorphism rs3091244 is associated with abdominal aortic aneurysm. DisGeNET Detail
Gene
-
dbSNP
rs3091244 dbSNP
Genome
hg38
Position
chr1:159,714,875-159,714,875
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))
rs3091244
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0714
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1196
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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