chr11:118001371:G>A Detail (hg38) (IL10RA)

Information

Genome

Assembly Position
hg19 chr11:117,872,086-117,872,086 View the variant detail on this assembly version.
hg38 chr11:118,001,371-118,001,371

HGVS

Type Transcript Protein
RefSeq NM_001558.3:c.*1730G>A
Ensemble ENST00000227752.8:c.*1730G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.484
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.556

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 146933 OMIM
HGNC 5964 HGNC
Ensembl ENSG00000110324 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44194800 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 28 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 B-Cell Lymphomas Statistically significant interactions with blood transfusion were observed for ... BeFree 22649007 Detail
0.010 B-Cell Lymphomas Statistically significant interactions with blood transfusion were observed for ... BeFree 22649007 Detail
<0.001 cervical squamous cell carcinoma Cervical SCC risk was associated with the minor alleles of the IL10RA rs9610 3' ... BeFree 23280621 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001558.4(IL10RA):c.*1730G>A AND Inflammatory bowel disease 28 ClinVar Detail
Statistically significant interactions with blood transfusion were observed for IL10RA (rs9610) (P(f... DisGeNET Detail
Statistically significant interactions with blood transfusion were observed for IL10RA (rs9610) (P(f... DisGeNET Detail
Cervical SCC risk was associated with the minor alleles of the IL10RA rs9610 3' UTR SNP (OR=1.76, 95... 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
rs9610 dbSNP
Genome
hg38
Position
chr11:118,001,371-118,001,371
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))
rs9610
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4835
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8102
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
270
East Asian Allele Counts (ExAC)
150
East Asian Heterozygous Counts (ExAC)
76
East Asian Homozygous Counts (ExAC)
37
East Asian Allele Frequency (ExAC)
0.5555555555555556
Chromosome Counts in All Race (ExAC)
10912
Allele Counts in All Race (ExAC)
5478
Heterozygous Counts in All Race (ExAC)
2620
Homozygous Counts in All Race (ExAC)
1429
Allele Frequency in All Race (ExAC)
0.5020161290322581
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