chr21:33297267:G>A Detail (hg38) (IL10RB)

Information

Genome

Assembly Position
hg19 chr21:34,669,572-34,669,572 View the variant detail on this assembly version.
hg38 chr21:33,297,267-33,297,267

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000609556.3:c.804+9006G>A
ENST00000637650.2:c.804+9006G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.451
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 123889 OMIM
HGNC 5965 HGNC
Ensembl ENSG00000243646 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64885498 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
0.015 leprosy Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
0.003 leprosy Significant associations (P < .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
<0.001 leprosy Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
<0.001 leprosy Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs18008... BeFree 21917900 Detail
Annotation

Annotations

DescrptionSourceLinks
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7281762 dbSNP
Genome
hg38
Position
chr21:33,297,267-33,297,267
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs7281762
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4514
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7565
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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