chr6:52052570:A>G Detail (hg19) (IL17A)

Information

Genome

Assembly Position
hg19 chr6:52,052,570-52,052,570
hg38 chr6:52,187,772-52,187,772 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000648244.1:c.197A>G ENST00000648244.1:p.Tyr66Cys
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 603149 OMIM
HGNC 5981 HGNC
Ensembl ENSG00000112115 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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 Chronic gastritis We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199... BeFree 26151690 Detail
0.006 stomach carcinoma The present meta-analysis showed the IL- 17A G197A polymorphism is associated wi... BeFree 24965422 Detail
<0.001 Helicobacter pylori infection We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199... BeFree 26151690 Detail
0.006 stomach carcinoma We firstly show that the polymorphism of IL-17A G197A but not C1249T is a risk f... BeFree 25008567 Detail
0.009 Malignant neoplasm of stomach The present meta-analysis showed the IL- 17A G197A polymorphism is associated wi... BeFree 24965422 Detail
0.002 colorectal cancer The haplotypes of IL-17A G197A/IL-17F T7488C and IL-23R were not significantly a... BeFree 25680555 Detail
<0.001 Helicobacter pylori infection We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199... BeFree 26151690 Detail
<0.001 Helicobacter pylori infection We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199... BeFree 26151690 Detail
0.004 Carcinogenesis IL-17A G197A and C1249T polymorphisms in gastric carcinogenesis. BeFree 25008567 Detail
0.002 colorectal carcinoma The haplotypes of IL-17A G197A/IL-17F T7488C and IL-23R were not significantly a... BeFree 25680555 Detail
<0.001 Helicobacter pylori infection We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199... BeFree 26151690 Detail
0.009 Malignant neoplasm of stomach We firstly show that the polymorphism of IL-17A G197A but not C1249T is a risk f... BeFree 25008567 Detail
0.001 Helicobacter pylori infection We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199... BeFree 26151690 Detail
<0.001 Helicobacter pylori infection We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199... BeFree 26151690 Detail
<0.001 Chronic gastritis We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199... BeFree 26151690 Detail
<0.001 Hematologic Neoplasms This study retrospectively examined the impact of a single-nucleotide polymorphi... BeFree 21217785 Detail
<0.001 Helicobacter pylori infection We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199... BeFree 26151690 Detail
Annotation

Annotations

DescrptionSourceLinks
We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199 A/C polymorphisms w... DisGeNET Detail
The present meta-analysis showed the IL- 17A G197A polymorphism is associated with a significantly i... DisGeNET Detail
We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199 A/C polymorphisms w... DisGeNET Detail
We firstly show that the polymorphism of IL-17A G197A but not C1249T is a risk factor for gastric ca... DisGeNET Detail
The present meta-analysis showed the IL- 17A G197A polymorphism is associated with a significantly i... DisGeNET Detail
The haplotypes of IL-17A G197A/IL-17F T7488C and IL-23R were not significantly associated with CRC. DisGeNET Detail
We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199 A/C polymorphisms w... DisGeNET Detail
We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199 A/C polymorphisms w... DisGeNET Detail
IL-17A G197A and C1249T polymorphisms in gastric carcinogenesis. DisGeNET Detail
The haplotypes of IL-17A G197A/IL-17F T7488C and IL-23R were not significantly associated with CRC. DisGeNET Detail
We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199 A/C polymorphisms w... DisGeNET Detail
We firstly show that the polymorphism of IL-17A G197A but not C1249T is a risk factor for gastric ca... DisGeNET Detail
We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199 A/C polymorphisms w... DisGeNET Detail
We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199 A/C polymorphisms w... DisGeNET Detail
We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199 A/C polymorphisms w... DisGeNET Detail
This study retrospectively examined the impact of a single-nucleotide polymorphism (rs2275913, G197A... DisGeNET Detail
We evaluated the relationship between IL-17A G197A, IL-17F A7488G and IL23R+2199 A/C polymorphisms w... 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
rs148704956 dbSNP
Genome
hg19
Position
chr6:52,052,570-52,052,570
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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