chr1:206771966:A>C Detail (hg38) (IL10, IL19)

Information

Genome

Assembly Position
hg19 chr1:206,945,311-206,945,311 View the variant detail on this assembly version.
hg38 chr1:206,771,966-206,771,966

HGVS

Type Transcript Protein
RefSeq NM_000572.2:c.165+305T>G
Ensemble ENST00000423557.1:c.165+305T>G
ENST00000659065.2:c.48+305T>G
Type Transcript Protein
RefSeq
Ensemble ENST00000656872.2:c.-149+1136A>C
ENST00000659997.3:c.-149+888A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.360
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 124092 OMIM
HGNC 5962 HGNC
Ensembl ENSG00000136634 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4568516 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 tgv4568516 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
0.376 Behcet Syndrome [Genome-wide association study identifies variants in the MHC class I, IL10, and... GAD 20622878 Detail
0.007 uveitis The results demonstrate that uveitis is associated with three haplotype-tagging ... BeFree 20335604 Detail
Annotation

Annotations

DescrptionSourceLinks
[Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regio... DisGeNET Detail
The results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in the... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3024490 dbSNP
Genome
hg38
Position
chr1:206,771,966-206,771,966
Variant Type
snv
Reference Allele
A
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))
rs3024490
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3604
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6041
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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