chr7:17379110:G>A Detail (hg19) (AHR)

Information

Genome

Assembly Position
hg19 chr7:17,379,110-17,379,110
hg38 chr7:17,339,486-17,339,486 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001621.4:c.1661G>A NP_001612.1:p.Arg554Lys
Ensemble ENST00000242057.9:c.1661G>A ENST00000242057.9:p.Arg554Lys
ENST00000642825.1:c.1616G>A ENST00000642825.1:p.Arg539Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.447
ToMMo:0.458
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.367

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600253 OMIM
HGNC 348 HGNC
Ensembl ENSG00000106546 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv28474650 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 not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 acromegaly Increased frequency of the rs2066853 variant of aryl hydrocarbon receptor gene i... BeFree 24521362 Detail
0.121 male infertility To examine whether Arg554Lys polymorphism in the gene for aryl hydrocarbon recep... BeFree 15474075 Detail
0.012 breast carcinoma The findings provide no evidence for a role of COMT Val58Met, CYP1A1*2A, CYP3A4*... BeFree 16103451 Detail
0.010 Xeroderma Pigmentosum, Complementation Group D We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null... BeFree 15459223 Detail
<0.001 Nosocomial pneumonia In the group of nosocomial pneumonia (NP; 268 patients) the risk of acute respir... BeFree 24127120 Detail
<0.001 Hyperlipidemia Genotype frequencies of AhR rs2066853 differed significantly between CAD and con... BeFree 25620626 Detail
0.027 Malignant neoplasm of breast The findings provide no evidence for a role of COMT Val58Met, CYP1A1*2A, CYP3A4*... BeFree 16103451 Detail
<0.001 Xeroderma Pigmentosum, Complementation Group D We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null... BeFree 15459223 Detail
<0.001 Xeroderma Pigmentosum, Complementation Group D We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null... BeFree 15459223 Detail
<0.001 Xeroderma Pigmentosum, Complementation Group D We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null... BeFree 15459223 Detail
<0.001 Xeroderma Pigmentosum, Complementation Group D We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null... BeFree 15459223 Detail
0.104 Malignant neoplasm of breast We investigated the associations between breast cancer and sequence variants in ... BeFree 16103451 Detail
0.097 Malignant neoplasm of breast We investigated the associations between breast cancer and sequence variants in ... BeFree 16103451 Detail
0.024 breast carcinoma We investigated the associations between breast cancer and sequence variants in ... BeFree 16103451 Detail
0.017 breast carcinoma We investigated the associations between breast cancer and sequence variants in ... BeFree 16103451 Detail
0.019 breast carcinoma Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG ... BeFree 21454829 Detail
0.099 Malignant neoplasm of breast Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG ... BeFree 21454829 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001621.5(AHR):c.1661G>A (p.Arg554Lys) AND not provided ClinVar Detail
Increased frequency of the rs2066853 variant of aryl hydrocarbon receptor gene in patients with acro... DisGeNET Detail
To examine whether Arg554Lys polymorphism in the gene for aryl hydrocarbon receptor (AHR) and/or Pro... DisGeNET Detail
The findings provide no evidence for a role of COMT Val58Met, CYP1A1*2A, CYP3A4*1B, CYP1B1 Leu432Val... DisGeNET Detail
We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glu... DisGeNET Detail
In the group of nosocomial pneumonia (NP; 268 patients) the risk of acute respiratory distress syndr... DisGeNET Detail
Genotype frequencies of AhR rs2066853 differed significantly between CAD and control subjects, while... DisGeNET Detail
The findings provide no evidence for a role of COMT Val58Met, CYP1A1*2A, CYP3A4*1B, CYP1B1 Leu432Val... DisGeNET Detail
We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glu... DisGeNET Detail
We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glu... DisGeNET Detail
We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glu... DisGeNET Detail
We assessed polymorphisms in the aryl hydrocarbon receptor (AhR-Arg554Lys), null variants of the glu... DisGeNET Detail
We investigated the associations between breast cancer and sequence variants in several genes in the... DisGeNET Detail
We investigated the associations between breast cancer and sequence variants in several genes in the... DisGeNET Detail
We investigated the associations between breast cancer and sequence variants in several genes in the... DisGeNET Detail
We investigated the associations between breast cancer and sequence variants in several genes in the... DisGeNET Detail
Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed gener... DisGeNET Detail
Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed gener... 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
rs2066853 dbSNP
Genome
hg19
Position
chr7:17,379,110-17,379,110
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
101.29
Standard deviation of sample read depth (HGVD)
49.46
Number of reference allele (HGVD)
1332
Number of alternative allele (HGVD)
1078
Allele Frequency (HGVD)
0.4473029045643154
Gene Symbol (HGVD)
AHR
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))
rs2066853
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4578
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7672
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
3163
East Asian Heterozygous Counts (ExAC)
2049
East Asian Homozygous Counts (ExAC)
557
East Asian Allele Frequency (ExAC)
0.366682123811732
Chromosome Counts in All Race (ExAC)
120788
Allele Counts in All Race (ExAC)
18902
Heterozygous Counts in All Race (ExAC)
14440
Homozygous Counts in All Race (ExAC)
2231
Allele Frequency in All Race (ExAC)
0.15648905520415934
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