chr9:117712004:G>A Detail (hg38) (TLR4)

Information

Genome

Assembly Position
hg19 chr9:120,474,282-120,474,282 View the variant detail on this assembly version.
hg38 chr9:117,712,004-117,712,004

HGVS

Type Transcript Protein
RefSeq NM_138554.4:c.261-385G>A
NM_003266.3:c.141-385G>A
Ensemble ENST00000355622.8:c.261-385G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.001
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
Type Database ID Link
Gene MIM 603030 OMIM
HGNC 11850 HGNC
Ensembl ENSG00000136869 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37430441 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
0.009 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
0.003 breast carcinoma Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs503... BeFree 25332681 Detail
0.006 Malignant neoplasm of breast Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs503... BeFree 25332681 Detail
0.001 breast carcinoma Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs503... BeFree 25332681 Detail
0.004 Malignant neoplasm of breast Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs503... BeFree 25332681 Detail
0.003 Malignant neoplasm of breast Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs503... BeFree 25332681 Detail
0.001 breast carcinoma Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs503... BeFree 25332681 Detail
Annotation

Annotations

DescrptionSourceLinks
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
Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% C... DisGeNET Detail
Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% C... DisGeNET Detail
Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% C... DisGeNET Detail
Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% C... DisGeNET Detail
Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% C... DisGeNET Detail
Overall, TLR1 rs7696175 (HR 1.40, 95% CI 1.03, 1.91; P(adj) = 0.032), TLR4 rs5030728 (HR 1.96, 95% C... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs5030728 dbSNP
Genome
hg38
Position
chr9:117,712,004-117,712,004
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))
rs5030728
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
17
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser