chr2:112829856:C>G Detail (hg38) (IL1B)

Information

Genome

Assembly Position
hg19 chr2:113,587,433-113,587,433 View the variant detail on this assembly version.
hg38 chr2:112,829,856-112,829,856

HGVS

Type Transcript Protein
RefSeq NM_000576.2:c.*505G>C
Ensemble ENST00000263341.7:c.*505G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.048
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 tgv8209799 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
0.009 Fatigue Controlling for genomic estimates of ancestry and self-reported race/ethnicity a... BeFree 24632226 Detail
<0.001 Fatigue Controlling for genomic estimates of ancestry and self-reported race/ethnicity a... BeFree 24632226 Detail
0.002 Fatigue Controlling for genomic estimates of ancestry and self-reported race/ethnicity a... BeFree 24632226 Detail
Annotation

Annotations

DescrptionSourceLinks
Controlling for genomic estimates of ancestry and self-reported race/ethnicity and gender, the high ... DisGeNET Detail
Controlling for genomic estimates of ancestry and self-reported race/ethnicity and gender, the high ... DisGeNET Detail
Controlling for genomic estimates of ancestry and self-reported race/ethnicity and gender, the high ... 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
rs1071676 dbSNP
Genome
hg38
Position
chr2:112,829,856-112,829,856
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs1071676
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0479
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
803
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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