chr2:102953444:G>A Detail (hg19) (IL1RL1)

Information

Genome

Assembly Position
hg19 chr2:102,953,444-102,953,444
hg38 chr2:102,336,984-102,336,984 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_016232.4:c.-149-1132G>A
NM_001282408.1:c.-146-1997G>A
Ensemble ENST00000233954.6:c.-149-1132G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 601203 OMIM
HGNC 5998 HGNC
Ensembl ENSG00000115602 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv7988634 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 Wheezing Of the remaining 15 SNPs, for seven we found significant relationships between g... BeFree 25102764 Detail
Annotation

Annotations

DescrptionSourceLinks
Of the remaining 15 SNPs, for seven we found significant relationships between genotype and endotoxi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17639215 dbSNP
Genome
hg19
Position
chr2:102,953,444-102,953,444
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs17639215
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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