chr10:6057082:T>C Detail (hg38) (IL2RA)

Information

Genome

Assembly Position
hg19 chr10:6,099,045-6,099,045 View the variant detail on this assembly version.
hg38 chr10:6,057,082-6,057,082

HGVS

Type Transcript Protein
RefSeq NM_001308242.1:c.64+5006A>G
NM_001308243.1:c.64+5006A>G
NM_000417.2:c.64+5006A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.101
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 147730 OMIM
HGNC 6008 HGNC
Ensembl ENSG00000134460 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv38248549 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
<0.001 Addison's disease due to autoimmunity The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, r... BeFree 25347332 Detail
<0.001 Autoimmune Primary Adrenal Insufficiency The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, r... BeFree 25347332 Detail
0.303 multiple sclerosis Using a cohort of over 700 AAV patients, two SLE case-control studies and an SLE... BeFree 19265545 Detail
0.303 multiple sclerosis Genome-wide association studies have identified an association between two intro... BeFree 21239413 Detail
<0.001 Ichthyosis bullosa of Siemens Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13,... BeFree 24041540 Detail
<0.001 irritable bowel syndrome Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13,... BeFree 24041540 Detail
<0.001 Superficial ulcer The proportions of patients with erosions at baseline and 1 year according to th... BeFree 24200909 Detail
0.303 multiple sclerosis Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as... GWASCAT 19525953 Detail
0.293 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
0.303 multiple sclerosis IL2RA gene polymorphism rs2104286 A&gt;G seen in multiple sclerosis is associate... BeFree 21911588 Detail
0.003 Giant Cell Arteritis [Influence of IL2RA rs2104286 polymorphism in the risk of biopsy-proven giant ce... GAD 20810507 Detail
0.257 rheumatoid arthritis Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extend... GWASCAT 24449572 Detail
0.371 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
0.002 temporal arteritis [IL2RA rs2104286 polymorphism does not appear to be a genetic risk factor for su... GAD 20810507 Detail
0.084 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
<0.001 Uveitis, Intermediate IL2RA gene polymorphism rs2104286 A&gt;G seen in multiple sclerosis is associate... BeFree 21911588 Detail
0.003 Giant Cell Arteritis Influence of IL2RA rs2104286 polymorphism in the risk of biopsy-proven giant cel... BeFree 20810507 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
Annotation

Annotations

DescrptionSourceLinks
The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, rs3136534, rs11594656... DisGeNET Detail
The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, rs3136534, rs11594656... DisGeNET Detail
Using a cohort of over 700 AAV patients, two SLE case-control studies and an SLE trio collection (to... DisGeNET Detail
Genome-wide association studies have identified an association between two intronic single nucleotid... DisGeNET Detail
Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), o... DisGeNET Detail
Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), o... DisGeNET Detail
The proportions of patients with erosions at baseline and 1 year according to the genotypes of IL2RA... DisGeNET Detail
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclero... DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail
IL2RA gene polymorphism rs2104286 A&gt;G seen in multiple sclerosis is associated with intermediate ... DisGeNET Detail
[Influence of IL2RA rs2104286 polymorphism in the risk of biopsy-proven giant cell arteritis.] DisGeNET Detail
Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide as... DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail
[IL2RA rs2104286 polymorphism does not appear to be a genetic risk factor for susceptibility to biop... DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail
IL2RA gene polymorphism rs2104286 A&gt;G seen in multiple sclerosis is associated with intermediate ... DisGeNET Detail
Influence of IL2RA rs2104286 polymorphism in the risk of biopsy-proven giant cell arteritis. DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2104286 dbSNP
Genome
hg38
Position
chr10:6,057,082-6,057,082
Variant Type
snv
Reference Allele
T
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))
rs2104286
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1007
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1688
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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