chr5:159324241:C>T Detail (hg38) (IL12B)

Information

Genome

Assembly Position
hg19 chr5:158,751,249-158,751,249 View the variant detail on this assembly version.
hg38 chr5:159,324,241-159,324,241

HGVS

Type Transcript Protein
RefSeq NM_002187.2:c.89-912G>A
Ensemble ENST00000231228.3:c.89-912G>A
ENST00000696750.1:c.-148-3721G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.182
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 161561 OMIM
HGNC 5970 HGNC
Ensembl ENSG00000113302 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23458349 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 CARCINOMA OF VULVA We also observed significantly increased risk of HPV-positive vulvar cancers ass... BeFree 26241630 Detail
<0.001 CARCINOMA OF VULVA We also observed significantly increased risk of HPV-positive vulvar cancers ass... BeFree 26241630 Detail
<0.001 Malignant neoplasm of vulva We also observed significantly increased risk of HPV-positive vulvar cancers ass... BeFree 26241630 Detail
<0.001 Malignant neoplasm of vulva We also observed significantly increased risk of HPV-positive vulvar cancers ass... BeFree 26241630 Detail
Annotation

Annotations

DescrptionSourceLinks
We also observed significantly increased risk of HPV-positive vulvar cancers associated with variant... DisGeNET Detail
We also observed significantly increased risk of HPV-positive vulvar cancers associated with variant... DisGeNET Detail
We also observed significantly increased risk of HPV-positive vulvar cancers associated with variant... DisGeNET Detail
We also observed significantly increased risk of HPV-positive vulvar cancers associated with variant... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2569254 dbSNP
Genome
hg38
Position
chr5:159,324,241-159,324,241
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))
rs2569254
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.182
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3051
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser