chr8:11343973:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:11,343,973-11,343,973 |
| hg38 | chr8:11,486,464-11,486,464 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:0.691 | |
| 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 |
|---|---|---|---|---|---|
| 0.128 | rheumatoid arthritis | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.006 | Lupus Erythematosus, Systemic | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.019 | multiple sclerosis | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.005 | rheumatoid arthritis | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.019 | Lupus Erythematosus, Systemic | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| <0.001 | multiple sclerosis | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.134 | Diabetes Mellitus, Insulin-Dependent | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| <0.001 | multiple sclerosis | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.003 | Diabetes Mellitus, Insulin-Dependent | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.273 | Lupus Erythematosus, Systemic | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.051 | rheumatoid arthritis | Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... | BeFree | 23678157 | Detail |
| 0.123 | rheumatoid arthritis | Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... | BeFree | 23678157 | Detail |
| 0.128 | rheumatoid arthritis | Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; ... | BeFree | 23678157 | Detail |
| 0.268 | Lupus Erythematosus, Systemic | Single-marker analysis validated the association of BLK rs2736340 (P=4.25×10(-6)... | BeFree | 21905002 | Detail |
| 0.005 | rheumatoid arthritis | [REL, encoding a member of the NF-kappaB family of transcription factors, is a n... | GAD | 19503088 | Detail |
| 0.128 | rheumatoid arthritis | [REL, encoding a member of the NF-kappaB family of transcription factors, is a n... | GAD | 19503088 | Detail |
| 0.019 | Lupus Erythematosus, Systemic | [Differential genetic associations for systemic lupus erythematosus based on ant... | GAD | 21408207 | Detail |
| <0.001 | Kidney Diseases | Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes m... | BeFree | 23023776 | Detail |
| <0.001 | Kidney Diseases | Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes m... | BeFree | 23023776 | Detail |
| 0.009 | Kidney Diseases | Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes m... | BeFree | 23023776 | Detail |
| 0.005 | Mucocutaneous Lymph Node Syndrome | [Two new susceptibility loci for Kawasaki disease identified through genome-wide... | GAD | 22446961 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... | DisGeNET | Detail |
| Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... | DisGeNET | Detail |
| Among these associations, we found that 8 single-nucleotide polymorphisms (SNP; rs1600249, rs2736340... | DisGeNET | Detail |
| Single-marker analysis validated the association of BLK rs2736340 (P=4.25×10(-6)) as well as TNFSF4 ... | DisGeNET | Detail |
| [REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk lo... | DisGeNET | Detail |
| [REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk lo... | DisGeNET | Detail |
| [Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody... | DisGeNET | Detail |
| Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes most associated with ... | DisGeNET | Detail |
| Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes most associated with ... | DisGeNET | Detail |
| Adjustment for other genetic ancestries, measures of SES, or SNPs in the genes most associated with ... | DisGeNET | Detail |
| [Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysi... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2736340 dbSNP
- Genome
- hg19
- Position
- chr8:11,343,973-11,343,973
- 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))
- rs2736340
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6914
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11588
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser