chr3:52256697:C>A Detail (hg19) (TLR9)

Information

Genome

Assembly Position
hg19 chr3:52,256,697-52,256,697
hg38 chr3:52,222,681-52,222,681 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_017442.3:c.1635G>T NP_059138.1:p.Pro545=
Ensemble ENST00000360658.3:c.1635G>T ENST00000360658.3:p.Pro545=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605474 OMIM
HGNC 15633 HGNC
Ensembl ENSG00000239732 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv90275877 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.011 HIV Infections Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635... BeFree 24747071 Detail
0.010 HIV Infections Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635... BeFree 24747071 Detail
<0.001 Acute GVH disease We found that two tagSNPs in the TLR9 gene in the donor side, +1174 A/G (rs35213... BeFree 24121213 Detail
0.340 Inflammatory Bowel Diseases The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.011 HIV Infections Infants with the TLR9 1635A (rs352140) variant were more likely to acquire HIV-1... BeFree 24037211 Detail
0.133 Inflammatory Bowel Diseases The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.016 HIV Infections : To analyze the influence of single-nucleotide polymorphisms (SNPs) in TLR2 (18... BeFree 18769358 Detail
0.020 ulcerative colitis The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.002 hepatitis B To investigate whether single nucleotide polymorphisms (SNPs) in Toll-like recep... BeFree 25388852 Detail
0.002 hepatitis B To investigate whether single nucleotide polymorphisms (SNPs) in Toll-like recep... BeFree 25388852 Detail
0.157 Inflammatory Bowel Diseases The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.011 HIV Infections : TLR9 1635A/G SNP might have a role in HIV clinical disease progression. BeFree 18769358 Detail
<0.001 Inflammatory Bowel Diseases The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.011 HIV Infections TLR9 1635A/G was associated with reduced HIV-1 acquisition among HIV-seronegativ... BeFree 24325963 Detail
0.173 Inflammatory Bowel Diseases The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
0.007 ulcerative colitis The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs3... BeFree 19455129 Detail
Annotation

Annotations

DescrptionSourceLinks
Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635A/G) with a higher C... DisGeNET Detail
Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635A/G) with a higher C... DisGeNET Detail
We found that two tagSNPs in the TLR9 gene in the donor side, +1174 A/G (rs352139) and +1635 C/T (rs... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
Infants with the TLR9 1635A (rs352140) variant were more likely to acquire HIV-1 by 1 month [hazard ... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
: To analyze the influence of single-nucleotide polymorphisms (SNPs) in TLR2 (1892A/C and 2258G/A), ... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) in Toll-like receptors (TLRs) 3 and 9 ... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) in Toll-like receptors (TLRs) 3 and 9 ... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
: TLR9 1635A/G SNP might have a role in HIV clinical disease progression. DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
TLR9 1635A/G was associated with reduced HIV-1 acquisition among HIV-seronegative controls with high... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) i... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs352140 dbSNP
Genome
hg19
Position
chr3:52,256,697-52,256,697
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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