chr2:102141867:C>T Detail (hg38) (IL1R1)

Information

Genome

Assembly Position
hg19 chr2:102,758,327-102,758,327 View the variant detail on this assembly version.
hg38 chr2:102,141,867-102,141,867

HGVS

Type Transcript Protein
RefSeq NM_001320986.1:c.-83-12074C>T
NM_001288706.1:c.-83-12074C>T
NM_001320978.1:c.-83-12074C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.403
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 147810 OMIM
HGNC 5993 HGNC
Ensembl ENSG00000115594 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv7983513 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
0.022 ankylosing spondylitis Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not signif... BeFree 22285486 Detail
0.015 ankylosing spondylitis Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not signif... BeFree 22285486 Detail
0.023 ankylosing spondylitis This study's purpose is to investigate the association of ankylosing spondylitis... BeFree 22285486 Detail
0.003 HIV Infections IL1R1 (rs2234650) polymorphisms CT/CC along the specific haplotypes of the IL-1 ... BeFree 23769826 Detail
Annotation

Annotations

DescrptionSourceLinks
Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated w... DisGeNET Detail
Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated w... DisGeNET Detail
This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleot... DisGeNET Detail
IL1R1 (rs2234650) polymorphisms CT/CC along the specific haplotypes of the IL-1 gene family can be e... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2234650 dbSNP
Genome
hg38
Position
chr2:102,141,867-102,141,867
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))
rs2234650
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4026
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6747
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser