chr1:206944645:T>C Detail (hg19) (IL10, IL19)

Information

Genome

Assembly Position
hg19 chr1:206,944,645-206,944,645
hg38 chr1:206,771,300-206,771,300 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000572.2:c.225+56A>G
Ensemble ENST00000659642.2:c.108+56A>G
ENST00000423557.1:c.225+56A>G
Type Transcript Protein
RefSeq
Ensemble ENST00000656872.2:c.-149+470T>C
ENST00000659997.3:c.-149+222T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.340
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 124092 OMIM
HGNC 5962 HGNC
Ensembl ENSG00000136634 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4568480 TogoVar
COSMIC
MONDO
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 tgv4568480 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-19 criteria provided, single submitter inflammatory bowel disease germline Detail
Benign 2023-11-12 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Ischemic stroke To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated wit... BeFree 23096091 Detail
0.376 Behcet Syndrome [Genome-wide association study identifies variants in the MHC class I, IL10, and... GAD 20622878 Detail
0.376 Behcet Syndrome Genome-wide association study identifies variants in the MHC class I, IL10, and ... GWASCAT 20622878 Detail
0.002 Ischemic Cerebrovascular Accident To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated wit... BeFree 23096091 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_153758.5(IL19):c.-149+222T>C AND Inflammatory bowel disease ClinVar Detail
NM_153758.5(IL19):c.-149+222T>C AND not specified ClinVar Detail
To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated with the risk of ischem... DisGeNET Detail
[Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regio... DisGeNET Detail
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 region... DisGeNET Detail
To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated with the risk of ischem... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1518111 dbSNP
Genome
hg19
Position
chr1:206,944,645-206,944,645
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))
rs1518111
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.34
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5698
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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