chr3:52227015:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr3:52,261,031-52,261,031 View the variant detail on this assembly version.
hg38 chr3:52,227,015-52,227,015

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.516
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 Carcinogenesis The findings indicate that TLR9 -1486T/C (rs187084) may contribute to cervical c... BeFree 22059466 Detail
0.004 rheumatoid arthritis One Turkish study showed a significant difference between TLR9 rs187084 allele f... BeFree 23420357 Detail
0.004 rheumatoid arthritis A significant difference between TLR9 rs187084 allele frequencies in RA patients... BeFree 23325096 Detail
0.004 rheumatoid arthritis Our study suggests that a single nucleotide polymorphism (rs187084) in TLR9 gene... BeFree 20422193 Detail
0.021 Septicemia Both rs187084 and rs352162 were significantly associated with TNF-α production b... BeFree 21633947 Detail
0.006 bacterial vaginosis Two SNPs were associated with BV as diagnosed by the Nugent score and the combin... BeFree 23021866 Detail
0.002 Autoimmune Diseases Single-nucleotide polymorphism (SNP) rs187084 (T-1486C) of the TLR9 promoter is ... BeFree 25248338 Detail
0.286 Sepsis Both rs187084 and rs352162 were significantly associated with TNF-α production b... BeFree 21633947 Detail
0.009 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.033 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.008 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.005 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.010 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.003 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.098 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.012 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.183 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.422 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.003 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.131 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
<0.001 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.008 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.004 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
<0.001 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.034 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.144 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
<0.001 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.008 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.130 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.187 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.012 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.004 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.131 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
<0.001 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.009 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
Annotation

Annotations

DescrptionSourceLinks
The findings indicate that TLR9 -1486T/C (rs187084) may contribute to cervical cancer carcinogenesis... DisGeNET Detail
One Turkish study showed a significant difference between TLR9 rs187084 allele frequencies and rheum... DisGeNET Detail
A significant difference between TLR9 rs187084 allele frequencies in RA patients and controls was fo... DisGeNET Detail
Our study suggests that a single nucleotide polymorphism (rs187084) in TLR9 gene may be a susceptibi... DisGeNET Detail
Both rs187084 and rs352162 were significantly associated with TNF-α production by peripheral blood l... DisGeNET Detail
Two SNPs were associated with BV as diagnosed by the Nugent score and the combined criteria: a minor... DisGeNET Detail
Single-nucleotide polymorphism (SNP) rs187084 (T-1486C) of the TLR9 promoter is associated with vari... DisGeNET Detail
Both rs187084 and rs352162 were significantly associated with TNF-α production by peripheral blood l... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Gene
-
dbSNP
rs187084 dbSNP
Genome
hg38
Position
chr3:52,227,015-52,227,015
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs187084
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5162
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8652
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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