chr15:89831025:C>A Detail (hg38) (AP3S2)

Information

Genome

Assembly Position
hg19 chr15:90,374,257-90,374,257 View the variant detail on this assembly version.
hg38 chr15:89,831,025-89,831,025

HGVS

Type Transcript Protein
RefSeq NM_005829.4:c.*4490G>T
NR_023361.1:c.*4490G>T
NR_037582.1:c.*4490G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.777
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 602416 OMIM
HGNC 571 HGNC
Ensembl ENSG00000157823 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53939563 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
0.608 Diabetes Mellitus, Non-Insulin-Dependent We genotyped 11,319 Japanese participants (8,318 with type 2 diabetes and 3,001 ... BeFree 23029454 Detail
0.120 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide association study in individuals of South Asian ancestry identifies ... GWASCAT 21874001 Detail
0.243 Diabetes Mellitus, Non-Insulin-Dependent In the combined analysis, we identified common genetic variants at six loci (GRB... GWASCAT 21874001 Detail
0.120 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide trans-ancestry meta-analysis provides insight into the genetic archi... GWASCAT 24509480 Detail
0.243 Diabetes Mellitus, Non-Insulin-Dependent Genome-wide trans-ancestry meta-analysis provides insight into the genetic archi... GWASCAT 24509480 Detail
0.243 Diabetes Mellitus, Non-Insulin-Dependent [In the combined analysis, we identified common genetic variants at six loci (GR... GAD 21874001 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped 11,319 Japanese participants (8,318 with type 2 diabetes and 3,001 controls) for each o... DisGeNET Detail
Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabe... DisGeNET Detail
In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A,... DisGeNET Detail
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 di... DisGeNET Detail
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 di... DisGeNET Detail
[In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A... 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
rs2028299 dbSNP
Genome
hg38
Position
chr15:89,831,025-89,831,025
Variant Type
snv
Reference Allele
C
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))
rs2028299
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7768
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13019
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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