chr6:52236941:T>C Detail (hg38) (IL17F)

Information

Genome

Assembly Position
hg19 chr6:52,101,739-52,101,739 View the variant detail on this assembly version.
hg38 chr6:52,236,941-52,236,941

HGVS

Type Transcript Protein
RefSeq NM_052872.3:c.482A>G NP_443104.1:p.His161Arg
Ensemble ENST00000336123.5:c.482A>G ENST00000336123.5:p.His161Arg
ENST00000699946.1:c.482A>G ENST00000699946.1:p.His161Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.122
ToMMo:0.113
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.145

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606496 OMIM
HGNC 16404 HGNC
Ensembl ENSG00000112116 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv25371004 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts Candidiasis, familial, 6 germline Detail
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 liver carcinoma Our results suggest that IL-17A rs4711998, IL-17A rs2275913, and IL-17F rs763780... BeFree 25429834 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
<0.001 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 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 Carcinoma of bladder Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17... BeFree 22692973 Detail
0.327 ulcerative colitis Given the association of IL23R with inflammatory bowel disease (IBD), we charact... BeFree 18088064 Detail
0.371 Crohn Disease Given the association of IL23R with inflammatory bowel disease (IBD), we charact... BeFree 18088064 Detail
0.002 Graves Disease In conclusion, the results indicate that IL-17F/rs763780 polymorphisms may affec... BeFree 22816799 Detail
<0.001 Graves Disease In conclusion, the results indicate that IL-17F/rs763780 polymorphisms may affec... BeFree 22816799 Detail
0.005 chronic fatigue syndrome Lower frequency of IL-17F sequence variant (His161Arg) in chronic fatigue syndro... BeFree 18774769 Detail
0.009 Malignant neoplasm of stomach Our meta analysis reveal the IL-17A rs763780T&gt;C gene polymorphism is involved... BeFree 25338988 Detail
0.003 Fatigue We investigated the association between CFS and the frequency of rs763780, a C/T... BeFree 18774769 Detail
0.004 Inflammatory Bowel Diseases Role of the novel Th17 cytokine IL-17F in inflammatory bowel disease (IBD): upre... BeFree 18088064 Detail
<0.001 Uveomeningoencephalitic Syndrome The C allele and TT genotype of rs763780 in the IL-17F gene appear to be associa... BeFree 20620187 Detail
0.003 Crohn Disease Role of the novel Th17 cytokine IL-17F in inflammatory bowel disease (IBD): upre... BeFree 18088064 Detail
0.002 stomach carcinoma The IL-17F rs763780T&gt;C polymorphism was also significantly associated with ga... BeFree 25147431 Detail
0.006 stomach carcinoma Our meta analysis reveal the IL-17A rs763780T&gt;C gene polymorphism is involved... BeFree 25338988 Detail
0.004 Malignant neoplasm of stomach The IL-17F rs763780T&gt;C polymorphism was also significantly associated with ga... BeFree 25147431 Detail
<0.001 Chronic Obstructive Airway Disease Given that asthma and COPD are complex diseases involving a number of genetic an... BeFree 16961709 Detail
0.006 asthma Given that asthma and COPD are complex diseases involving a number of genetic an... BeFree 16961709 Detail
0.002 Pancreatic Neoplasm [The variant 161R form of IL-17F is a natural antagonist of the antiangiogenic e... GAD 22142827 Detail
0.003 myocardial infarction Association analysis of the IL-17F His161Arg polymorphism in myocardial infarcti... BeFree 19838108 Detail
0.004 ulcerative colitis The IL17F (rs763780, 7488T/C) variant was associated with an increased risk for ... BeFree 23652560 Detail
0.006 asthma IL-17F sequence variant (His161Arg) is associated with protection against asthma... BeFree 16630936 Detail
0.001 colorectal cancer The results of this study indicate that the 7488T&gt;C (rs763780) in the IL-17F ... BeFree 25296730 Detail
0.001 colorectal carcinoma The results of this study indicate that the 7488T&gt;C (rs763780) in the IL-17F ... BeFree 25296730 Detail
0.425 rheumatoid arthritis The present study aimed to determine the association between the polymorphic var... BeFree 25387578 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_052872.4(IL17F):c.482A>G (p.His161Arg) AND Candidiasis, familial, 6 ClinVar Detail
NM_052872.4(IL17F):c.482A>G (p.His161Arg) AND not provided ClinVar Detail
Our results suggest that IL-17A rs4711998, IL-17A rs2275913, and IL-17F rs763780 polymorphisms do no... DisGeNET Detail
Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17F were associated wi... DisGeNET Detail
Our results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17F were associated wi... 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 results suggested that the SNP rs2275913 of IL-17A and SNP rs763780 of IL-17F were associated wi... DisGeNET Detail
Given the association of IL23R with inflammatory bowel disease (IBD), we characterized the role of I... DisGeNET Detail
Given the association of IL23R with inflammatory bowel disease (IBD), we characterized the role of I... DisGeNET Detail
In conclusion, the results indicate that IL-17F/rs763780 polymorphisms may affect the susceptibility... DisGeNET Detail
In conclusion, the results indicate that IL-17F/rs763780 polymorphisms may affect the susceptibility... DisGeNET Detail
Lower frequency of IL-17F sequence variant (His161Arg) in chronic fatigue syndrome patients. DisGeNET Detail
Our meta analysis reveal the IL-17A rs763780T&gt;C gene polymorphism is involved in risk of gastric ... DisGeNET Detail
We investigated the association between CFS and the frequency of rs763780, a C/T genetic polymorphis... DisGeNET Detail
Role of the novel Th17 cytokine IL-17F in inflammatory bowel disease (IBD): upregulated colonic IL-1... DisGeNET Detail
The C allele and TT genotype of rs763780 in the IL-17F gene appear to be associated with protection ... DisGeNET Detail
Role of the novel Th17 cytokine IL-17F in inflammatory bowel disease (IBD): upregulated colonic IL-1... DisGeNET Detail
The IL-17F rs763780T&gt;C polymorphism was also significantly associated with gastric cancer develop... DisGeNET Detail
Our meta analysis reveal the IL-17A rs763780T&gt;C gene polymorphism is involved in risk of gastric ... DisGeNET Detail
The IL-17F rs763780T&gt;C polymorphism was also significantly associated with gastric cancer develop... DisGeNET Detail
Given that asthma and COPD are complex diseases involving a number of genetic and environmental fact... DisGeNET Detail
Given that asthma and COPD are complex diseases involving a number of genetic and environmental fact... DisGeNET Detail
[The variant 161R form of IL-17F is a natural antagonist of the antiangiogenic effects of wild-type ... DisGeNET Detail
Association analysis of the IL-17F His161Arg polymorphism in myocardial infarction. DisGeNET Detail
The IL17F (rs763780, 7488T/C) variant was associated with an increased risk for the development of C... DisGeNET Detail
IL-17F sequence variant (His161Arg) is associated with protection against asthma and antagonizes wil... DisGeNET Detail
The results of this study indicate that the 7488T&gt;C (rs763780) in the IL-17F gene may be correlat... DisGeNET Detail
The results of this study indicate that the 7488T&gt;C (rs763780) in the IL-17F gene may be correlat... DisGeNET Detail
The present study aimed to determine the association between the polymorphic variants of the IL-17A ... 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
rs763780 dbSNP
Genome
hg38
Position
chr6:52,236,941-52,236,941
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
84.69
Standard deviation of sample read depth (HGVD)
37.76
Number of reference allele (HGVD)
2125
Number of alternative allele (HGVD)
295
Allele Frequency (HGVD)
0.12190082644628099
Gene Symbol (HGVD)
IL17F
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))
rs763780
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1129
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1892
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8614
East Asian Allele Counts (ExAC)
1249
East Asian Heterozygous Counts (ExAC)
1029
East Asian Homozygous Counts (ExAC)
110
East Asian Allele Frequency (ExAC)
0.1449965172974228
Chromosome Counts in All Race (ExAC)
121120
Allele Counts in All Race (ExAC)
8110
Heterozygous Counts in All Race (ExAC)
7430
Homozygous Counts in All Race (ExAC)
340
Allele Frequency in All Race (ExAC)
0.06695838837516513
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