chr10:6122009:T>A Detail (hg19) (IL2RA)

Information

Genome

Assembly Position
hg19 chr10:6,122,009-6,122,009
hg38 chr10:6,080,046-6,080,046 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.048
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2007-09-01 no assertion criteria provided type 1 diabetes mellitus 10 germline Detail
Likely benign 2023-02-27 criteria provided, single submitter IL2RA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 Diabetes Mellitus, Insulin-Dependent Three variants were found to be significantly associated with type 1 diabetes (T... BeFree 23922971 Detail
<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
0.293 Diabetes Mellitus, Insulin-Dependent Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protecti... BeFree 23922971 Detail
0.281 Diabetes Mellitus, Insulin-Dependent Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protecti... BeFree 23922971 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000010.11:g.6080046T>A AND Type 1 diabetes mellitus 10 ClinVar Detail
NC_000010.11:g.6080046T>A AND IL2RA-related disorder ClinVar Detail
Three variants were found to be significantly associated with type 1 diabetes (T1D): NLRP1 rs1215022... DisGeNET Detail
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
Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protective factors of T1D, w... DisGeNET Detail
Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protective factors of T1D, w... DisGeNET Detail
Gene
-
dbSNP
rs11594656 dbSNP
Genome
hg19
Position
chr10:6,122,009-6,122,009
Variant Type
snv
Reference Allele
T
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))
rs11594656
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0481
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
806
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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