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 |
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
Descrption | Source | Links |
---|---|---|
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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