chr6:31542476:C>A Detail (hg19) (TNF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:31,542,476-31,542,476 |
| hg38 | chr6:31,574,699-31,574,699 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.159 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
protective
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
protective
|
2006-08-01 | no assertion criteria provided | Alzheimer disease, protection against |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.012 | Malignant neoplasm of ovary | We examined associations between six TNF single nucleotide polymorphisms (SNPs) ... | BeFree | 18196539 | Detail |
| 0.027 | Malaria, Falciparum | We examined a possible association of three single nucleotide polymorphisms (SNP... | BeFree | 17493155 | Detail |
| 0.012 | ovarian carcinoma | We examined associations between six TNF single nucleotide polymorphisms (SNPs) ... | BeFree | 18196539 | Detail |
| 0.316 | Diabetes Mellitus, Non-Insulin-Dependent | Therefore, this work was planned to evaluate the association of -863C/A (rs18006... | BeFree | 25704106 | Detail |
| 0.031 | Diabetes Mellitus, Non-Insulin-Dependent | Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs36152... | BeFree | 20177654 | Detail |
| 0.022 | Metabolic syndrome X | Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs36152... | BeFree | 20177654 | Detail |
| 0.009 | Metabolic syndrome X | Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs36152... | BeFree | 20177654 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000006.12:g.31574699C>A AND Alzheimer disease, protection against | ClinVar | Detail |
| We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs180063... | DisGeNET | Detail |
| We examined a possible association of three single nucleotide polymorphisms (SNPs) of the tumor necr... | DisGeNET | Detail |
| We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs180063... | DisGeNET | Detail |
| Therefore, this work was planned to evaluate the association of -863C/A (rs1800630) and -1031T/C (rs... | DisGeNET | Detail |
| Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs361525, and rs1800610) in... | DisGeNET | Detail |
| Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs361525, and rs1800610) in... | DisGeNET | Detail |
| Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs361525, and rs1800610) in... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1800630 dbSNP
- Genome
- hg19
- Position
- chr6:31,542,476-31,542,476
- 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))
- rs1800630
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1592
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2669
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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