chr10:6060049:C>T Detail (hg38) (IL2RA)

Information

Genome

Assembly Position
hg19 chr10:6,102,012-6,102,012 View the variant detail on this assembly version.
hg38 chr10:6,060,049-6,060,049

HGVS

Type Transcript Protein
RefSeq NM_001308242.1:c.64+2039G>A
NM_001308243.1:c.64+2039G>A
NM_000417.2:c.64+2039G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.103
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 tgv38248611 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
0.303 multiple sclerosis [We have performed a meta-analysis of GWAS in MS that more than doubles the size... GAD 22190364 Detail
0.246 Crohn Disease Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's diseas... GWASCAT 21102463 Detail
0.303 multiple sclerosis Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loc... GWASCAT 22190364 Detail
0.303 multiple sclerosis Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritabl... GWASCAT 17660530 Detail
0.246 Crohn Disease [Genome-wide meta-analysis increases to 71 the number of confirmed Crohn\'s dise... GAD 21102463 Detail
0.303 multiple sclerosis Genome-wide association studies have identified an association between two intro... BeFree 21239413 Detail
Annotation

Annotations

DescrptionSourceLinks
[We have performed a meta-analysis of GWAS in MS that more than doubles the size of previous gene di... DisGeNET Detail
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loc... DisGeNET Detail
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. DisGeNET Detail
Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for m... DisGeNET Detail
[Genome-wide meta-analysis increases to 71 the number of confirmed Crohn\'s disease susceptibility l... DisGeNET Detail
Genome-wide association studies have identified an association between two intronic single nucleotid... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12722489 dbSNP
Genome
hg38
Position
chr10:6,060,049-6,060,049
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs12722489
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1028
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1723
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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