chr8:42140549:G>T Detail (hg19) (IKBKB)

Information

Genome

Assembly Position
hg19 chr8:42,140,549-42,140,549
hg38 chr8:42,283,031-42,283,031 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001556.2:c.106-5603G>T
NR_040009.1:c.106-5603G>T
NM_001190720.2:c.-87-5603G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.405
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 603258 OMIM
HGNC 5960 HGNC
Ensembl ENSG00000104365 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32924174 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
0.005 Malignant tumor of colon The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037... BeFree 21129206 Detail
0.007 Malignant tumor of colon The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037... BeFree 21129206 Detail
0.006 colon carcinoma The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037... BeFree 21129206 Detail
0.007 colon carcinoma The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037... BeFree 21129206 Detail
Annotation

Annotations

DescrptionSourceLinks
The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined gen... DisGeNET Detail
The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined gen... DisGeNET Detail
The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined gen... DisGeNET Detail
The most significant finding (nominal P = 0.0004; false discovery rate q = 0.037) was a combined gen... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs5029748 dbSNP
Genome
hg19
Position
chr8:42,140,549-42,140,549
Variant Type
snv
Reference Allele
G
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))
rs5029748
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4053
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6792
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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