chr9:120470054:A>G Detail (hg19) (TLR4)

Information

Genome

Assembly Position
hg19 chr9:120,470,054-120,470,054
hg38 chr9:117,707,776-117,707,776 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_138554.4:c.94-787A>G
NM_003266.3:c.-147-423A>G
Ensemble ENST00000355622.8:c.94-787A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.635
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 tgv37430325 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
0.006 Allergic rhinitis (disorder) Children carrying a minor rs1800629 (TNF) or rs1927911 (TLR4) allele may be at a... BeFree 23639307 Detail
<0.001 cerebral infarction TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cereb... BeFree 25590839 Detail
0.001 Cerebrovascular accident TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cereb... BeFree 25590839 Detail
0.002 Cerebrovascular accident TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cereb... BeFree 25590839 Detail
0.006 Allergic rhinitis (disorder) Antibiotic and mold exposure in infancy, GA or AA genotypes of IL-13 (rs20541) (... BeFree 24973272 Detail
<0.001 pelvic inflammatory disease Women with PID who carried the TLR4 rs1927911 CC genotype had significantly incr... BeFree 22238472 Detail
0.002 cerebral infarction TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cereb... BeFree 25590839 Detail
0.058 asthma The TLR4 single-nucleotide polymorphisms rs1927911, rs10759931, and rs6478317 mo... BeFree 24243740 Detail
Annotation

Annotations

DescrptionSourceLinks
Children carrying a minor rs1800629 (TNF) or rs1927911 (TLR4) allele may be at a higher risk of alle... DisGeNET Detail
TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cerebral infarction in th... DisGeNET Detail
TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cerebral infarction in th... DisGeNET Detail
TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cerebral infarction in th... DisGeNET Detail
Antibiotic and mold exposure in infancy, GA or AA genotypes of IL-13 (rs20541) (aOR 4.53; 95% CI, 1.... DisGeNET Detail
Women with PID who carried the TLR4 rs1927911 CC genotype had significantly increased odds of C. tra... DisGeNET Detail
TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cerebral infarction in th... DisGeNET Detail
The TLR4 single-nucleotide polymorphisms rs1927911, rs10759931, and rs6478317 modified the associati... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1927911 dbSNP
Genome
hg19
Position
chr9:120,470,054-120,470,054
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))
rs1927911
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.635
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10642
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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