chr1:206778859:C>G Detail (hg38) (IL19)

Information

Genome

Assembly Position
hg19 chr1:206,952,204-206,952,204 View the variant detail on this assembly version.
hg38 chr1:206,778,859-206,778,859

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000656872.2:c.-149+8029C>G
ENST00000659997.3:c.-149+7781C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.047
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 605687 OMIM
HGNC 5990 HGNC
Ensembl ENSG00000142224 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4568730 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
0.004 lymphoma Five hundred patients with aggressive NHL treated with CHOP/CHOEP were analyzed ... BeFree 18559596 Detail
Annotation

Annotations

DescrptionSourceLinks
Five hundred patients with aggressive NHL treated with CHOP/CHOEP were analyzed for IL-10 gene polym... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10494879 dbSNP
Genome
hg38
Position
chr1:206,778,859-206,778,859
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))
rs10494879
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0466
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
781
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser