chr5:132660808:A>C Detail (hg38) (IL13)

Information

Genome

Assembly Position
hg19 chr5:131,996,500-131,996,500 View the variant detail on this assembly version.
hg38 chr5:132,660,808-132,660,808

HGVS

Type Transcript Protein
RefSeq NM_002188.2:c.*526A>C
Ensemble ENST00000304506.7:c.*526A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.694
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147683 OMIM
HGNC 5973 HGNC
Ensembl ENSG00000169194 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv22786639 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
0.251 psoriasis A multitiered genetic association study of 25 215 single-nucleotide polymorphism... BeFree 18075513 Detail
0.251 psoriasis We examined the association between IL13 polymorphisms, smoking, and PsA in two ... BeFree 19554022 Detail
<0.001 arthritis The authors genotyped three groups of Caucasians: those with PsA, those with pso... BeFree 21613309 Detail
Annotation

Annotations

DescrptionSourceLinks
A multitiered genetic association study of 25 215 single-nucleotide polymorphisms (SNPs) in three ca... DisGeNET Detail
We examined the association between IL13 polymorphisms, smoking, and PsA in two Ps sample sets genot... DisGeNET Detail
The authors genotyped three groups of Caucasians: those with PsA, those with psoriasis without arthr... 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
rs848 dbSNP
Genome
hg38
Position
chr5:132,660,808-132,660,808
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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))
rs848
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6942
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11635
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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