NC_000010.11:g.6072697C>A AND Diabetes mellitus, insulin-dependent, 10

Clinical significance:association (Last evaluated: Nov 28, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000015781.21

Allele description [Variation Report for NC_000010.11:g.6072697C>A]

NC_000010.11:g.6072697C>A

Gene:
IL2RA:interleukin 2 receptor subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p15.1
Genomic location:
Preferred name:
NC_000010.11:g.6072697C>A
HGVS:
  • NC_000010.11:g.6072697C>A
  • NC_000010.10:g.6114660C>A
Nucleotide change:
C-A (rs41295061)
Links:
OMIM: 147730.0002; dbSNP: 41295061
GMAF:
0.0280(A), 41295061
NCBI 1000 Genomes Browser:
rs41295061

Condition(s)

Name:
Diabetes mellitus, insulin-dependent, 10 (IDDM10)
Identifiers:
MedGen: C1866040; OMIM: 601942

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036048OMIMno assertion criteria providedassociation
(Nov 28, 2012)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.

Lowe CE, Cooper JD, Brusko T, Walker NM, Smyth DJ, Bailey R, Bourget K, Plagnol V, Field S, Atkinson M, Clayton DG, Wicker LS, Todd JA.

Nat Genet. 2007 Sep;39(9):1074-82.

PubMed [citation]
PMID:
17676041

Details of each submission

From OMIM, SCV000036048.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an analysis of 5,312 individuals with type 1 diabetes (IDDM10; 601942) and 6,855 controls, Lowe et al. (2007) found that a SNP in the IL2RA gene, ss52580101, was the most associated SNP in a 40-kb region encompassing IL2RA intron 1 and the 5-prime regions of IL2RA and RBM17 (606935) (P = 3.37 x 10(-20)). The submitted SNP ss52580101 has been assigned the refSNP identifier rs41295061.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 6, 2016