chr12:71269322:C>T Detail (hg38) (TSPAN8)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:71,663,102-71,663,102 View the variant detail on this assembly version. |
| hg38 | chr12:71,269,322-71,269,322 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000393330.6:c.-110+8029G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.788 | |
| 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 |
|---|---|---|---|---|---|
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| 0.057 | Diabetes Mellitus, Non-Insulin-Dependent | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| <0.001 | colorectal cancer | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| 0.005 | colorectal carcinoma | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| <0.001 | colorectal carcinoma | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| <0.001 | colorectal carcinoma | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| <0.001 | colorectal cancer | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| <0.001 | colorectal cancer | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| 0.005 | colorectal cancer | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| 0.314 | Diabetes Mellitus, Non-Insulin-Dependent | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| 0.032 | Diabetes Mellitus, Non-Insulin-Dependent | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| <0.001 | colorectal carcinoma | Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597... | BeFree | 21602532 | Detail |
| 0.057 | Diabetes Mellitus, Non-Insulin-Dependent | Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) a... | BeFree | 19833889 | Detail |
| 0.001 | Diabetes | Furthermore, the diabetes-associated C-allele of TSPAN8 rs7961581 associated wit... | BeFree | 18567820 | Detail |
| <0.001 | obesity | Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) a... | BeFree | 19833889 | Detail |
| <0.001 | Latent autoimmune diabetes mellitus in adult | Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) a... | BeFree | 19833889 | Detail |
| 0.006 | diabetes mellitus | Furthermore, the diabetes-associated C-allele of TSPAN8 rs7961581 associated wit... | BeFree | 18567820 | Detail |
| 0.032 | Diabetes Mellitus, Non-Insulin-Dependent | [Currently, common risk variants for type 2 diabetes do not provide strong predi... | GAD | 18591388 | Detail |
| 0.080 | Diabetes | Furthermore, the diabetes-associated C-allele of TSPAN8 rs7961581 associated wit... | BeFree | 18567820 | Detail |
| 0.005 | obesity | Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) a... | BeFree | 19833889 | Detail |
| 0.295 | diabetes mellitus | Furthermore, the diabetes-associated C-allele of TSPAN8 rs7961581 associated wit... | BeFree | 18567820 | Detail |
| 0.083 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.393 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.614 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.214 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.336 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.314 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.452 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.290 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.296 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.090 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.341 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.181 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.057 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.017 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.032 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.176 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.293 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
| 0.006 | diabetes mellitus | We evaluated the impact on diabetes-related intermediary traits of common novel ... | BeFree | 18567820 | Detail |
| 0.005 | diabetes mellitus | We evaluated the impact on diabetes-related intermediary traits of common novel ... | BeFree | 18567820 | Detail |
| <0.001 | Diabetes | We evaluated the impact on diabetes-related intermediary traits of common novel ... | BeFree | 18567820 | Detail |
| 0.293 | Diabetes Mellitus, Non-Insulin-Dependent | We evaluated the impact on diabetes-related intermediary traits of common novel ... | BeFree | 18567820 | Detail |
| 0.001 | Diabetes | We evaluated the impact on diabetes-related intermediary traits of common novel ... | BeFree | 18567820 | Detail |
| <0.001 | Diabetes | We evaluated the impact on diabetes-related intermediary traits of common novel ... | BeFree | 18567820 | Detail |
| 0.008 | diabetes mellitus | We evaluated the impact on diabetes-related intermediary traits of common novel ... | BeFree | 18567820 | Detail |
| 0.005 | diabetes mellitus | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
| 0.001 | Diabetes | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
| <0.001 | diabetes mellitus | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
| 0.019 | Diabetes | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
| 0.006 | diabetes mellitus | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
| 0.060 | diabetes mellitus | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
| 0.002 | Fibrillation | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Four type 2 diabetes SNPs were associated with colorectal cancer risk: rs7578597 (THADA), rs864745 (... | DisGeNET | Detail |
| Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) and the obesity-linke... | DisGeNET | Detail |
| Furthermore, the diabetes-associated C-allele of TSPAN8 rs7961581 associated with decreased levels o... | DisGeNET | Detail |
| Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) and the obesity-linke... | DisGeNET | Detail |
| Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) and the obesity-linke... | DisGeNET | Detail |
| Furthermore, the diabetes-associated C-allele of TSPAN8 rs7961581 associated with decreased levels o... | DisGeNET | Detail |
| [Currently, common risk variants for type 2 diabetes do not provide strong predictive value at a pop... | DisGeNET | Detail |
| Furthermore, the diabetes-associated C-allele of TSPAN8 rs7961581 associated with decreased levels o... | DisGeNET | Detail |
| Of type 2 diabetes-associated genes, the CC/CT genotypes of rs7961581 (TSPAN8) and the obesity-linke... | DisGeNET | Detail |
| Furthermore, the diabetes-associated C-allele of TSPAN8 rs7961581 associated with decreased levels o... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
| We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... | DisGeNET | Detail |
| We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... | DisGeNET | Detail |
| We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... | DisGeNET | Detail |
| We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... | DisGeNET | Detail |
| We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... | DisGeNET | Detail |
| We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... | DisGeNET | Detail |
| We evaluated the impact on diabetes-related intermediary traits of common novel type 2 diabetes-asso... | DisGeNET | Detail |
| We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
| We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
| We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
| We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
| We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
| We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
| We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7961581 dbSNP
- Genome
- hg38
- Position
- chr12:71,269,322-71,269,322
- 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))
- rs7961581
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7882
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13210
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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