chr21:33296442:A>G Detail (hg38) (IL10RB, IFNAR2-IL10RB)

Information

Genome

Assembly Position
hg19 chr21:34,668,747-34,668,747 View the variant detail on this assembly version.
hg38 chr21:33,296,442-33,296,442

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000433395.7:c.*85A>G
Type Transcript Protein
RefSeq NM_000628.4:c.*85A>G
Ensemble ENST00000290200.7:c.*85A>G
ENST00000609556.3:c.804+8181A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.790
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.760

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC
Ensembl ENSG00000249624 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64885461 TogoVar
COSMIC
MONDO
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 tgv64885461 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-13 criteria provided, single submitter inflammatory bowel disease 25 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
0.015 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
NM_000628.5(IL10RB):c.*85A>G AND Inflammatory bowel disease 25 ClinVar Detail
NM_000628.5(IL10RB):c.*85A>G AND not specified ClinVar 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
Significant associations (P &lt; .05) were observed for 8 polymorphisms (rs1800871, rs1800872, and r... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3171425 dbSNP
Genome
hg38
Position
chr21:33,296,442-33,296,442
Variant Type
snv
Reference Allele
A
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))
rs3171425
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7897
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13235
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
3748
East Asian Allele Counts (ExAC)
2847
East Asian Heterozygous Counts (ExAC)
775
East Asian Homozygous Counts (ExAC)
1036
East Asian Allele Frequency (ExAC)
0.7596051227321238
Chromosome Counts in All Race (ExAC)
63808
Allele Counts in All Race (ExAC)
40592
Heterozygous Counts in All Race (ExAC)
16116
Homozygous Counts in All Race (ExAC)
12238
Allele Frequency in All Race (ExAC)
0.6361584754262788
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