chr6:52186235:G>A Detail (hg38) (IL17A)

Information

Genome

Assembly Position
hg19 chr6:52,051,033-52,051,033 View the variant detail on this assembly version.
hg38 chr6:52,186,235-52,186,235

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.382
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.006 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.004 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.010 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.002 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.004 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.017 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.003 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.003 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.005 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.001 Malignant neoplasm of ovary A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.007 stomach carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.001 ovarian carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.006 colorectal carcinoma A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.008 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
0.013 colorectal cancer A case-control study of 401 cases and 300 sex- and age-matched controls was perf... BeFree 24446182 Detail
<0.001 Hematologic Neoplasms This study retrospectively examined the impact of a single-nucleotide polymorphi... BeFree 21217785 Detail
<0.001 liver carcinoma Our results suggest that IL-17A rs4711998, IL-17A rs2275913, and IL-17F rs763780... BeFree 25429834 Detail
0.138 Autoimmune Diseases These findings substantiate the functional relevance of the rs2275913 polymorphi... BeFree 22028838 Detail
0.009 Malignant neoplasm of stomach We concluded that G-197A polymorphism of IL-17A gene was significantly associate... BeFree 19414056 Detail
<0.001 Gastrointestinal Diseases Our study provides moderate evidence that IL-17 (-197G/A) polymorphism may be a ... BeFree 26164762 Detail
0.008 ulcerative colitis Influence of IL17A polymorphisms (rs2275913 and rs3748067) on the susceptibility... BeFree 22955700 Detail
<0.001 Malignant neoplasm of gastrointestinal tract Association between the interleukin-17A -197G&gt;A (rs2275913) polymorphism and ... BeFree 25422215 Detail
<0.001 Carcinoma of bladder Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17... BeFree 22692973 Detail
0.006 stomach carcinoma We concluded that G-197A polymorphism of IL-17A gene was significantly associate... BeFree 19414056 Detail
<0.001 Malignant neoplasm of urinary bladder Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17... BeFree 22692973 Detail
0.100 asthma The preliminary results demonstrate that IL-17 SNP rs2275913 was associated with... BeFree 20437253 Detail
0.086 Periodontal Diseases Our data suggest that IL17A and the presence of IL17A (rs2275913) A allele are a... BeFree 23137879 Detail
0.100 asthma We investigated the possible association among asthma and IL-17A -197G/A (rs2275... BeFree 24393079 Detail
0.003 tuberculosis In contrast, SNPs in the proinflammatory IL17A and IL17F genes (rs2275913 and rs... BeFree 25857634 Detail
<0.001 Malignant neoplasm of urinary bladder Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17... BeFree 22692973 Detail
<0.001 Gingival Diseases Our data suggest that IL17A and the presence of IL17A (rs2275913) A allele are a... BeFree 23137879 Detail
<0.001 Impaired cognition In the present study, we examined whether interleukin-10 (IL-10, 1082G/A), inter... BeFree 23485736 Detail
0.121 Graft-vs-Host Disease When we examined the impact of rs2275913 in a cohort consisting of 438 pairs of ... BeFree 22028838 Detail
<0.001 Carcinoma of bladder Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17... BeFree 22692973 Detail
0.008 ulcerative colitis The single nucleotide polymorphism (SNP), rs2275913, in the promoter region of t... BeFree 22028838 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
0.425 rheumatoid arthritis The present study aimed to determine the association between the polymorphic var... BeFree 25387578 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000006.12:g.52186235G>A AND not provided ClinVar Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to ex... DisGeNET Detail
This study retrospectively examined the impact of a single-nucleotide polymorphism (rs2275913, G197A... DisGeNET Detail
Our results suggest that IL-17A rs4711998, IL-17A rs2275913, and IL-17F rs763780 polymorphisms do no... DisGeNET Detail
These findings substantiate the functional relevance of the rs2275913 polymorphism and indicate that... DisGeNET Detail
We concluded that G-197A polymorphism of IL-17A gene was significantly associated with the developme... DisGeNET Detail
Our study provides moderate evidence that IL-17 (-197G/A) polymorphism may be a potential risk facto... DisGeNET Detail
Influence of IL17A polymorphisms (rs2275913 and rs3748067) on the susceptibility to ulcerative colit... DisGeNET Detail
Association between the interleukin-17A -197G&gt;A (rs2275913) polymorphism and risk of digestive ca... DisGeNET Detail
Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17F were associated wi... DisGeNET Detail
We concluded that G-197A polymorphism of IL-17A gene was significantly associated with the developme... DisGeNET Detail
Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17F were associated wi... DisGeNET Detail
The preliminary results demonstrate that IL-17 SNP rs2275913 was associated with several asthma-rela... DisGeNET Detail
Our data suggest that IL17A and the presence of IL17A (rs2275913) A allele are associated with the a... DisGeNET Detail
We investigated the possible association among asthma and IL-17A -197G/A (rs2275913), IL-17F 7488A/G... DisGeNET Detail
In contrast, SNPs in the proinflammatory IL17A and IL17F genes (rs2275913 and rs763780, respectively... DisGeNET Detail
Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17F were associated wi... DisGeNET Detail
Our data suggest that IL17A and the presence of IL17A (rs2275913) A allele are associated with the a... DisGeNET Detail
In the present study, we examined whether interleukin-10 (IL-10, 1082G/A), interleukin-17A (IL-17A) ... DisGeNET Detail
When we examined the impact of rs2275913 in a cohort consisting of 438 pairs of patients and their u... DisGeNET Detail
Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17F were associated wi... DisGeNET Detail
The single nucleotide polymorphism (SNP), rs2275913, in the promoter region of the IL-17 gene is ass... 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 present study aimed to determine the association between the polymorphic variants of the IL-17A ... DisGeNET Detail
Gene
-
dbSNP
rs2275913 dbSNP
Genome
hg38
Position
chr6:52,186,235-52,186,235
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))
rs2275913
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.382
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6403
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser