chr2:113889119:C>T Detail (hg19) (IL1RN)

Information

Genome

Assembly Position
hg19 chr2:113,889,119-113,889,119
hg38 chr2:113,131,542-113,131,542 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_173841.2:c.327+385C>T
NM_000577.4:c.264+385C>T
NM_001318914.1:c.216+385C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.664
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 147679 OMIM
HGNC 6000 HGNC
Ensembl ENSG00000136689 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv8217640 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
0.007 Tuberculosis, Pulmonary Using multiple corrections, significant overall risk against PTB was observed at... BeFree 22771610 Detail
Annotation

Annotations

DescrptionSourceLinks
Using multiple corrections, significant overall risk against PTB was observed at seven loci which in... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4252019 dbSNP
Genome
hg19
Position
chr2:113,889,119-113,889,119
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))
rs4252019
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6635
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11121
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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