chr21:42416077:G>A Detail (hg38) (UBASH3A)

Information

Genome

Assembly Position
hg19 chr21:43,836,186-43,836,186 View the variant detail on this assembly version.
hg38 chr21:42,416,077-42,416,077

HGVS

Type Transcript Protein
RefSeq NM_001001895.2:c.554-365G>A
NM_018961.3:c.668-365G>A
NM_001243467.1:c.554-365G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.039
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 605736 OMIM
HGNC 12462 HGNC
Ensembl ENSG00000160185 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65121362 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 Diabetes In survival analysis, 45% of general population DAISY children with PTPN22 rs247... BeFree 25075402 Detail
0.122 vitiligo [We observed associations between generalized vitiligo and markers implicating m... GAD 20410501 Detail
0.133 Diabetes Mellitus, Insulin-Dependent [Genome-wide association study and meta-analysis find that over 40 loci affect r... GAD 19430480 Detail
0.122 vitiligo Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. GWASCAT 20410501 Detail
0.008 Autoimmune Diseases [Meta-analysis of genome-wide association studies in celiac disease and rheumato... GAD 21383967 Detail
0.122 rheumatoid arthritis [Genome-wide association study meta-analysis identifies seven new rheumatoid art... GAD 20453842 Detail
<0.001 diabetes mellitus In survival analysis, 45% of general population DAISY children with PTPN22 rs247... BeFree 25075402 Detail
0.133 Diabetes Mellitus, Insulin-Dependent Genome-wide association study and meta-analysis find that over 40 loci affect ri... GWASCAT 19430480 Detail
Annotation

Annotations

DescrptionSourceLinks
In survival analysis, 45% of general population DAISY children with PTPN22 rs2476601 TT or HLA-DR3/4... DisGeNET Detail
[We observed associations between generalized vitiligo and markers implicating multiple genes, some ... DisGeNET Detail
[Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabet... DisGeNET Detail
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. DisGeNET Detail
[Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identif... DisGeNET Detail
[Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.] DisGeNET Detail
In survival analysis, 45% of general population DAISY children with PTPN22 rs2476601 TT or HLA-DR3/4... DisGeNET Detail
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabete... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11203203 dbSNP
Genome
hg38
Position
chr21:42,416,077-42,416,077
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs11203203
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0391
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
655
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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