chr4:153688371:T>C Detail (hg38) (TLR2)

Information

Genome

Assembly Position
hg19 chr4:154,609,523-154,609,523 View the variant detail on this assembly version.
hg38 chr4:153,688,371-153,688,371

HGVS

Type Transcript Protein
RefSeq NM_001318787.1:c.-1409+324T>C
NM_001318789.1:c.-1409+324T>C
NM_001318790.1:c.-1409+324T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.999
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 603028 OMIM
HGNC 11848 HGNC
Ensembl ENSG00000137462 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv19142334 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
<0.001 Active tuberculosis Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes d... BeFree 19723394 Detail
<0.001 Active tuberculosis Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes d... BeFree 19723394 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
0.012 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.008 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.183 Crohn Disease The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.009 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.013 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.009 Crohn Disease The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
<0.001 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.327 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.001 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.009 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.131 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.126 Crohn Disease The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.295 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.034 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
<0.001 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
0.187 ulcerative colitis The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... BeFree 24971461 Detail
Annotation

Annotations

DescrptionSourceLinks
Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes detected interactions... DisGeNET Detail
Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes detected interactions... 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
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail
The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1816702 dbSNP
Genome
hg38
Position
chr4:153,688,371-153,688,371
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))
rs1816702
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9993
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16748
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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