rs20541 Rat Genome Database

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Variant: rs20541 -  Homo sapiens

RGD ID: 8564382
RS ID: rs20541
ClinVar ID: CV29712
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL13  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 131,995,964
GRCh38 5 132,660,272
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012090.1:g.7100A>G
NC_000005.10:g.132660272A>G
NC_000005.9:g.131995964A>G
NP_002179.2:p.Gln144Arg
More... 		10/16/2019 missense variant risk factor|benign ASTHMA, BRONCHIAL; Asthma, susceptibility to; ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO
Disease Annotations     Click to see Annotation Detail View
asthma  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Asthma  (IAGP)
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST009850 Atopic asthma 23,982 European ancestry cases, 393,169 European ancestry controls ? NR 1E-21 21.0 Affymetrix [~ 8270000] (imputed) N/A atopic asthma (EFO:0010638)
 PMID:31669095
GCST006408 Allergic sensitization 8,040 European ancestry cases, 16,441 European ancestry controls A 0.24 5E-7 6.301029995663981 Affymetrix, Illumina [16531985] (imputed) 1.1363636 allergic sensitization measurement (EFO:0005298)
 PMID:30013184
GCST000322 Psoriasis 1,359 European ancestry cases, 1,400 European ancestry controls G 0.79 5E-15 14.301029995663981 Perlegen [~ 2500000] (imputed) 1.27 psoriasis (EFO:0000676)
 PMID:19169254
GCST001316 IgE levels 6,819 European ancestry individuals A NR 3E-18 17.522878745280337 Affymetrix [2540223] (imputed) 0.08 serum IgE measurement (EFO:0004579)
 PMID:22075330
GCST001387 Hodgkin's lymphoma 1,200 European ancestry cases, 6,417 European ancestry controls ? NR 1E-8 8.0 Illumina [502514] 1.47 Hodgkins lymphoma (EFO:0000183)
 PMID:22286212
GCST002083 Self-reported allergy 53,862 European ancestry individuals A 0.2019 0.000001 6.0 Illumina [2400000] (imputed) 0.0724 PMID:23817569
GCST002738 Psoriasis 4,212 European ancestry cases, 8,032 European ancestry controls A NR 0.000005 5.301029995663981 Affymetrix, Illumina, Perlegen [up to 5493100] (imputed) 1.1890606 psoriasis (EFO:0000676)
 PMID:25574825
GCST003269 Cutaneous psoriasis 1,363 European ancestry cases, 4,934 European ancestry controls G NR 3E-8 7.522878745280337 Illumina [11532644] (imputed) 1.237 cutaneous psoriasis measurement (EFO:0007773)
psoriasis (EFO:0000676)
 PMID:26626624
GCST009717 Hay fever and/or eczema 84,034 European ancestry cases, 239,773 European ancestry controls A 0.1799 5E-13 12.301029995663981 Affymetrix [15688218] (imputed) 1.057 Eczematoid dermatitis (HP:0000964)
allergic rhinitis (EFO:0005854)
 PMID:31361310
GCST009718 Eczema 7,884 European ancestry cases, 239,773 European ancestry controls A 0.2945 2E-14 13.698970004336019 Affymetrix [15688218] (imputed) 1.174 Eczematoid dermatitis (HP:0000964)
 PMID:31361310
GCST005212 Asthma 19,954 European ancestry cases, 107,715 European ancestry controls, 2,149 African ancestry cases, 6,055 African ancestry controls, 1,239 Japanese ancestry cases, 3,976 Japanese ancestry controls, 606 Latino cases, 792 Latino controls A 0.20999999999999996 5E-16 15.301029995663981 Affymetrix, Illumina, Perlegen [2831075] (imputed) 1.1235955 PMID:29273806
GCST006862 Asthma 19,954 European ancestry cases, 107,715 European ancestry controls G 0.79 1E-14 14.0 Affymetrix, Illumina, Perlegen [2831075] (imputed) 0.12 PMID:29273806
GCST002874 Psoriasis 3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls G 0.79 5E-9 8.301029995663981 Illumina [up to 4778154] (imputed) 1.14 psoriasis (EFO:0000676)
 PMID:25903422
GCST011975 Childhood asthma with severe exacerbations 2,866 European ancestry cases, 65,415 European ancestry controls A NR 1E-8 8.0 Illumina [up to 525976] (imputed) 1.21 asthma exacerbation measurement (EFO:0007614)
 PMID:33328473
GCST90086149 Atopic dermatitis 2,597 Japanese ancestry cases, 110,504 Japanese ancestry controls, 25,685 European ancestry cases, 76,768 European ancestry controls ? NR 7E-15 14.154901959985743 Illumina [5170515] (imputed) 0.91 atopic eczema (EFO:0000274)
 PMID:34116867
GCST90002388 Lymphocyte count 408,112 British individuals G 0.819349 7E-9 8.154901959985743 Affymetrix [93095623] (imputed) 0.017205536 lymphocyte count (EFO:0004587)
 PMID:32888494
GCST90018784 Atopic dermatitis 6,224 European ancestry cases, 475,075 European ancestry controls, 4,296 East Asian ancestry cases, 163,807 East Asian ancestry controls G NR 1E-18 18.0 Affymetrix, Illumina [25843389] (imputed) 0.1451 atopic eczema (EFO:0000274)
 PMID:34594039

Variant Details
Variant Transcripts
Gene Symbol:IL13
Accession:NM_001354993
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVWSINLTAGMYCAALESLINVSGCSAIEKTQRMLSGFCPHKVSAGQFSSLHVRDTKIEVAQFVKDLLLHLKKLFREGRF
N*

Gene Symbol:IL13
Accession:NM_001354991
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVWSINLTAGMYCAALESLINVSGCSAIEKTQRMLSGFCPHKVSAGQFSSLHVRDTKIEVAQFVKDLLLHLKKLFREGRF
N*

Gene Symbol:IL13
Accession:NM_002188
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPLLNPLLLALGLMALLLTTVIALTCLGGFASPGPVPPSTALRELIEELVNITQNQKAPLCNGSMVWSINLTAGMYCAA
LESLINVSGCSAIEKTQRMLSGFCPHKVSAGQFSSLHVRDTKIEVAQFVKDLLLHLKKLFREGRFN*

Gene Symbol:IL13
Accession:NM_001354992
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVWSINLTAGMYCAALESLINVSGCSAIEKTQRMLSGFCPHKVSAGQFSSLHVRDTKIEVAQFVKDLLLHLKKLFREGRF
N*
Variant Samples
Additional References at PubMed
PMID:10699178   PMID:12928861   PMID:15356556   PMID:15483090   PMID:15711639   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015785 CLINVAR
  RCV002509161 CLINVAR
  RCV003974831 CLINVAR
dbSNP (RS) rs20541 CLINVAR
GWAS Catalog GCST000322 GWAS Catalog
  GCST002874 GWAS Catalog
  GCST003269 GWAS Catalog
  GCST006862 GWAS Catalog
  GCST90002388 GWAS Catalog
  GCST90002393 GWAS Catalog
MedGen C1869116 CLINVAR
  C4017540 CLINVAR
NCBI Gene IL13 CLINVAR
OMIM 147683 CLINVAR
  600807 CLINVAR
  607154 CLINVAR
OMIM Allele 147683.0002 CLINVAR