chr16:11179873:A>G Detail (hg19) (CLEC16A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:11,179,873-11,179,873 |
hg38 | chr16:11,086,016-11,086,016 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_015226.2:c.2116+24994A>G | |
NM_001243403.1:c.2062+24994A>G | ||
Ensemble | ENST00000409790.6:c.2116+24994A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.171 | |
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 |
---|---|---|---|---|---|
0.019 | multiple sclerosis | Two of these seven SNPs showed evidence of association with multiple sclerosis; ... | BeFree | 18987646 | Detail |
0.281 | Diabetes Mellitus, Insulin-Dependent | [Genome-wide association study and meta-analysis find that over 40 loci affect r... | GAD | 19430480 | Detail |
0.281 | Diabetes Mellitus, Insulin-Dependent | Robust associations of four new chromosome regions from genome-wide analyses of ... | GWASCAT | 17554260 | Detail |
0.281 | Diabetes Mellitus, Insulin-Dependent | [Genome-wide association analysis of autoantibody positivity in type 1 diabetes ... | GAD | 21829393 | Detail |
0.281 | Diabetes Mellitus, Insulin-Dependent | Meta-analysis of genome-wide association study data identifies additional type 1... | GWASCAT | 18978792 | Detail |
0.281 | Diabetes Mellitus, Insulin-Dependent | Genome-wide association study and meta-analysis find that over 40 loci affect ri... | GWASCAT | 19430480 | Detail |
0.281 | Diabetes Mellitus, Insulin-Dependent | Genome-wide association study of 14,000 cases of seven common diseases and 3,000... | GWASCAT | 17554300 | Detail |
0.282 | multiple sclerosis | Two of these seven SNPs showed evidence of association with multiple sclerosis; ... | BeFree | 18987646 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 f... | DisGeNET | Detail |
[Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabet... | DisGeNET | Detail |
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. | DisGeNET | Detail |
[Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.] | DisGeNET | Detail |
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. | DisGeNET | Detail |
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabete... | DisGeNET | Detail |
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. | DisGeNET | Detail |
Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 f... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs12708716 dbSNP
- Genome
- hg19
- Position
- chr16:11,179,873-11,179,873
- 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))
- rs12708716
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.171
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2866
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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