chr11:117993398:G>A Detail (hg38) (IL10RA)

Information

Genome

Assembly Position
hg19 chr11:117,864,113-117,864,113 View the variant detail on this assembly version.
hg38 chr11:117,993,398-117,993,398

HGVS

Type Transcript Protein
RefSeq NM_001558.3:c.525G>A NP_001549.2:p.Pro175=
Ensemble ENST00000227752.8:c.525G>A ENST00000227752.8:p.Pro175=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.404
ToMMo:0.425
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.329

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 tgv44194308 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts inflammatory bowel disease 28 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
0.002 Ischemic Cerebrovascular Accident To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated wit... BeFree 23096091 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001558.4(IL10RA):c.525G>A (p.Pro175=) AND Inflammatory bowel disease 28 ClinVar Detail
To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated with the risk of ischem... DisGeNET Detail
To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated with the risk of ischem... 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
rs2228054 dbSNP
Genome
hg38
Position
chr11:117,993,398-117,993,398
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1178
Mean of sample read depth (HGVD)
45.89
Standard deviation of sample read depth (HGVD)
21.70
Number of reference allele (HGVD)
1404
Number of alternative allele (HGVD)
952
Allele Frequency (HGVD)
0.40407470288624786
Gene Symbol (HGVD)
IL10RA
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))
rs2228054
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.425
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7122
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8636
East Asian Allele Counts (ExAC)
2841
East Asian Heterozygous Counts (ExAC)
1905
East Asian Homozygous Counts (ExAC)
468
East Asian Allele Frequency (ExAC)
0.3289717461787865
Chromosome Counts in All Race (ExAC)
121282
Allele Counts in All Race (ExAC)
9964
Heterozygous Counts in All Race (ExAC)
8418
Homozygous Counts in All Race (ExAC)
773
Allele Frequency in All Race (ExAC)
0.0821556372751109
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