chr7:150743626:A>G Detail (hg38) (GIMAP5, GIMAP1-GIMAP5)

Information

Genome

Assembly Position
hg19 chr7:150,440,714-150,440,714 View the variant detail on this assembly version.
hg38 chr7:150,743,626-150,743,626

HGVS

Type Transcript Protein
RefSeq NM_001199577.1:c.*563A>G
NM_001303630.1:c.*563A>G
Ensemble ENST00000611999.4:c.*563A>G
Type Transcript Protein
RefSeq NM_018384.4:c.*563A>G
Ensemble ENST00000358647.5:c.*563A>G
ENST00000498181.6:c.*563A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.269
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
HGNC 51257 HGNC
Ensembl ENSG00000281887 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv31471644 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 608086 OMIM
HGNC 18005 HGNC
Ensembl ENSG00000196329 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv31471644 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 Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2286899 dbSNP
Genome
hg38
Position
chr7:150,743,626-150,743,626
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2286899
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2687
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4503
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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