chr2:112834786:C>T Detail (hg38) (IL1B)

Information

Genome

Assembly Position
hg19 chr2:113,592,363-113,592,363 View the variant detail on this assembly version.
hg38 chr2:112,834,786-112,834,786

HGVS

Type Transcript Protein
RefSeq NM_000576.2:c.99+780G>A
Ensemble ENST00000263341.7:c.99+780G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.494
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 147720 OMIM
HGNC 5992 HGNC
Ensembl ENSG00000125538 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv8210059 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
0.080 Diabetes The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher gl... BeFree 19820020 Detail
<0.001 diabetes mellitus The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher gl... BeFree 19820020 Detail
<0.001 Diabetes The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher gl... BeFree 19820020 Detail
0.295 diabetes mellitus The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher gl... BeFree 19820020 Detail
Annotation

Annotations

DescrptionSourceLinks
The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher glucose, higher homeos... DisGeNET Detail
The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher glucose, higher homeos... DisGeNET Detail
The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher glucose, higher homeos... DisGeNET Detail
The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher glucose, higher homeos... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3917356 dbSNP
Genome
hg38
Position
chr2:112,834,786-112,834,786
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))
rs3917356
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4943
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8284
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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