chr10:6114660:C>A Detail (hg19) (IL2RA)

Information

Genome

Assembly Position
hg19 chr10:6,114,660-6,114,660
hg38 chr10:6,072,697-6,072,697 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

[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
Pathogenic 2007-09-01 no assertion criteria provided TYPE 1 DIABETES MELLITUS, INSULIN-DEPENDENT, 10 germline Detail
Likely benign 2023-02-22 criteria provided, single submitter IL2RA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.303 multiple sclerosis Using a cohort of over 700 AAV patients, two SLE case-control studies and an SLE... BeFree 19265545 Detail
0.002 Diabetes Furthermore, the polymorphisms studied in 4q27 were not dependent on the presenc... BeFree 21875375 Detail
0.084 diabetes mellitus Furthermore, the polymorphisms studied in 4q27 were not dependent on the presenc... BeFree 21875375 Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000010.11:g.6072697C>A AND TYPE 1 DIABETES MELLITUS, INSULIN-DEPENDENT, 10 ClinVar Detail
NC_000010.11:g.6072697C>A AND IL2RA-related disorder ClinVar Detail
Using a cohort of over 700 AAV patients, two SLE case-control studies and an SLE trio collection (to... DisGeNET Detail
Furthermore, the polymorphisms studied in 4q27 were not dependent on the presence of autoantibodies;... DisGeNET Detail
Furthermore, the polymorphisms studied in 4q27 were not dependent on the presence of autoantibodies;... DisGeNET Detail
Gene
-
dbSNP
rs41295061 dbSNP
Genome
hg19
Position
chr10:6,114,660-6,114,660
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser