chr2:102341256:C>T Detail (hg38) (IL1RL1)

Information

Genome

Assembly Position
hg19 chr2:102,957,716-102,957,716 View the variant detail on this assembly version.
hg38 chr2:102,341,256-102,341,256

HGVS

Type Transcript Protein
RefSeq NM_016232.4:c.610+428C>T
NM_003856.3:c.610+428C>T
NM_001282408.1:c.259+428C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.411
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.481

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601203 OMIM
HGNC 5998 HGNC
Ensembl ENSG00000115602 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv7988918 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
<0.001 Eosinophilia We recruited 284 patients with NP in four participating hospitals in Belgium and... BeFree 19860791 Detail
<0.001 Disorder characterized by eosinophilia We recruited 284 patients with NP in four participating hospitals in Belgium and... BeFree 19860791 Detail
<0.001 Eosinophilic disorder We recruited 284 patients with NP in four participating hospitals in Belgium and... BeFree 19860791 Detail
Annotation

Annotations

DescrptionSourceLinks
We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy control... DisGeNET Detail
We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy control... DisGeNET Detail
We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy control... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1420101 dbSNP
Genome
hg38
Position
chr2:102,341,256-102,341,256
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs1420101
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4112
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6892
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
486
East Asian Allele Counts (ExAC)
234
East Asian Heterozygous Counts (ExAC)
120
East Asian Homozygous Counts (ExAC)
57
East Asian Allele Frequency (ExAC)
0.48148148148148145
Chromosome Counts in All Race (ExAC)
16812
Allele Counts in All Race (ExAC)
6165
Heterozygous Counts in All Race (ExAC)
3913
Homozygous Counts in All Race (ExAC)
1126
Allele Frequency in All Race (ExAC)
0.36670235546038543
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