chr7:150571010:G>T Detail (hg38) (GIMAP4)

Information

Genome

Assembly Position
hg19 chr7:150,268,098-150,268,098 View the variant detail on this assembly version.
hg38 chr7:150,571,010-150,571,010

HGVS

Type Transcript Protein
RefSeq NM_018326.2:c.58+1051G>T
Ensemble ENST00000255945.4:c.58+1051G>T
ENST00000461940.5:c.100+1009G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.352
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 608087 OMIM
HGNC 21872 HGNC
Ensembl ENSG00000133574 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv31466294 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
0.293 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
0.371 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
0.084 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
Annotation

Annotations

DescrptionSourceLinks
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9640279 dbSNP
Genome
hg38
Position
chr7:150,571,010-150,571,010
Variant Type
snv
Reference Allele
G
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))
rs9640279
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3515
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5890
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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