chr16:57413502:T>C Detail (hg38) (CCL17)

Information

Genome

Assembly Position
hg19 chr16:57,447,414-57,447,414 View the variant detail on this assembly version.
hg38 chr16:57,413,502-57,413,502

HGVS

Type Transcript Protein
RefSeq NM_002987.2:c.-59-372T>C
Ensemble ENST00000219244.9:c.-59-372T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.601
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 601520 OMIM
HGNC 10615 HGNC
Ensembl ENSG00000102970 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55638581 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 Classical Hodgkin's Lymphoma We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... BeFree 24008079 Detail
<0.001 Classical Hodgkin's Lymphoma We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... BeFree 24008079 Detail
<0.001 Classical Hodgkin's Lymphoma We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... BeFree 24008079 Detail
Annotation

Annotations

DescrptionSourceLinks
We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... DisGeNET Detail
We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... DisGeNET Detail
We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs223828 dbSNP
Genome
hg38
Position
chr16:57,413,502-57,413,502
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs223828
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6013
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10078
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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