chr10:70931474:C>T Detail (hg19) (VPS26A)

Information

Genome

Assembly Position
hg19 chr10:70,931,474-70,931,474
hg38 chr10:69,171,718-69,171,718 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001318944.1:c.*449C>T
NM_001318945.1:c.*449C>T
NM_001318946.1:c.*449C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.104
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 605506 OMIM
HGNC 12711 HGNC
Ensembl ENSG00000122958 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39654471 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
0.243 Diabetes Mellitus, Non-Insulin-Dependent In the combined analysis, we identified common genetic variants at six loci (GRB... GWASCAT 21874001 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent rs231362-KCNQ1 and rs1802295-VPS26A are associated with T2DM in the Chinese popu... BeFree 23043714 Detail
0.243 Diabetes Mellitus, Non-Insulin-Dependent [In the combined analysis, we identified common genetic variants at six loci (GR... GAD 21874001 Detail
0.243 Diabetes Mellitus, Non-Insulin-Dependent rs231362-KCNQ1 and rs1802295-VPS26A are associated with T2DM in the Chinese popu... BeFree 23043714 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
In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A,... DisGeNET Detail
rs231362-KCNQ1 and rs1802295-VPS26A are associated with T2DM in the Chinese population. DisGeNET Detail
[In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A... DisGeNET Detail
rs231362-KCNQ1 and rs1802295-VPS26A are associated with T2DM in the Chinese population. 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
rs1802295 dbSNP
Genome
hg19
Position
chr10:70,931,474-70,931,474
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))
rs1802295
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1039
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1741
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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