chr6:31366595:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:31,366,595-31,366,595 |
| hg38 | chr6:31,398,818-31,398,818 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:0.327 | |
| 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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.001 | hepatitis B | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.011 | hepatitis B | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | hepatitis C | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | hepatitis C | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.032 | hepatitis C | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.004 | hepatitis C | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.001 | hepatitis B | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | hepatitis C | Recently, genetic variations in MICA (lead single nucleotide polymorphism [SNP] ... | BeFree | 23665287 | Detail |
| <0.001 | hepatitis C | We recently reported that a single nucleotide polymorphism (SNP) rs2596542 locat... | BeFree | 23024757 | Detail |
| <0.001 | Hepatitis B, Chronic | Genetic variation at -1878 (rs2596542) in MICA gene region is associated with ch... | BeFree | 23994040 | Detail |
| 0.017 | hepatitis B | We demonstrated a significant contribution of MICA rs2596542G/A promoter variant... | BeFree | 24010643 | Detail |
| 0.244 | liver carcinoma | We also found that the risk allele of rs2596542 was associated with lower solubl... | GWASCAT | 21499248 | Detail |
| 0.120 | liver carcinoma | Genome-wide association study identifies a susceptibility locus for HCV-induced ... | GWASCAT | 21499248 | Detail |
| 0.018 | hepatitis B | We demonstrated a significant contribution of MICA rs2596542G/A promoter variant... | BeFree | 24010643 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Recently, genetic variations in MICA (lead single nucleotide polymorphism [SNP] rs2596542) were iden... | DisGeNET | Detail |
| We recently reported that a single nucleotide polymorphism (SNP) rs2596542 located in the MICA promo... | DisGeNET | Detail |
| Genetic variation at -1878 (rs2596542) in MICA gene region is associated with chronic hepatitis B vi... | DisGeNET | Detail |
| We demonstrated a significant contribution of MICA rs2596542G/A promoter variant and nonsynonymous s... | DisGeNET | Detail |
| We also found that the risk allele of rs2596542 was associated with lower soluble MICA protein level... | DisGeNET | Detail |
| Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carci... | DisGeNET | Detail |
| We demonstrated a significant contribution of MICA rs2596542G/A promoter variant and nonsynonymous s... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2596542 dbSNP
- Genome
- hg19
- Position
- chr6:31,366,595-31,366,595
- 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))
- rs2596542
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3275
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5485
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16748
Genome browser