chr10:6101713:T>C Detail (hg19) (IL2RA)

Information

Genome

Assembly Position
hg19 chr10:6,101,713-6,101,713
hg38 chr10:6,059,750-6,059,750 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000417.2:c.64+2338A>G
NM_001308242.1:c.64+2338A>G
NM_001308243.1:c.64+2338A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.475
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 tgv38248603 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
0.145 Graves Disease We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3... BeFree 20615141 Detail
0.001 Autoimmune thyroid disease We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3... BeFree 20615141 Detail
<0.001 thyroiditis We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3... BeFree 20615141 Detail
0.001 thyroiditis We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3... BeFree 20615141 Detail
0.243 alopecia areata Genome-wide association study in alopecia areata implicates both innate and adap... GWASCAT 20596022 Detail
0.005 Graves Disease The GG allele of rs3118470 in the IL2RA gene was significantly associated with G... BeFree 20615141 Detail
0.243 alopecia areata [Genome-wide association study in alopecia areata implicates both innate and ada... GAD 20596022 Detail
0.293 Diabetes Mellitus, Insulin-Dependent Previous investigations have also demonstrated that two intronic SNPs (rs706778 ... BeFree 20615141 Detail
0.303 multiple sclerosis Genetic risk and a primary role for cell-mediated immune mechanisms in multiple ... GWASCAT 21833088 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
We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN2... DisGeNET Detail
We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN2... DisGeNET Detail
We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN2... DisGeNET Detail
We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN2... DisGeNET Detail
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. DisGeNET Detail
The GG allele of rs3118470 in the IL2RA gene was significantly associated with GD (p = 0.03), althou... DisGeNET Detail
[Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.] DisGeNET Detail
Previous investigations have also demonstrated that two intronic SNPs (rs706778 and rs3118470) in th... DisGeNET Detail
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3118470 dbSNP
Genome
hg19
Position
chr10:6,101,713-6,101,713
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))
rs3118470
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4745
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7953
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser