chr2:219259732:G>C Detail (hg19) (SLC11A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:219,259,732-219,259,732 |
| hg38 | chr2:218,395,009-218,395,009 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000578.3:c.1627G>C | NP_000569.3:p.Asp543His |
| Ensemble | ENST00000233202.11:c.1627G>C | ENST00000233202.11:p.Asp543His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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 |
|---|---|---|---|---|---|
| 0.337 | tuberculosis | Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribu... | BeFree | 17466092 | Detail |
| 0.123 | Buruli Ulcer | Susceptibility to Buruli ulcer is associated with the SLC11A1 (NRAMP1) D543N pol... | BeFree | 16395392 | Detail |
| 0.124 | HIV Infections | To study the variations in the NRAMP1 gene using five genotypes (274C/T, 577-18G... | BeFree | 12019922 | Detail |
| 0.002 | tuberculosis | To test this possibility, we examined NRAMP1 variants at the INT4 and D543N loci... | BeFree | 15825023 | Detail |
| 0.002 | tuberculosis | In Meta-analysis, significant associations were observed between tuberculosis ri... | BeFree | 21283567 | Detail |
| 0.137 | leprosy | To determine the association of Nramp1/Slc11a1 with tuberculosis and leprosy, we... | BeFree | 20578522 | Detail |
| 0.002 | Tuberculosis, Pulmonary | To test this possibility, we examined NRAMP1 variants at the INT4 and D543N loci... | BeFree | 15825023 | Detail |
| 0.120 | Buruli ulcer, susceptibility to | NA | CLINVAR | Detail | |
| <0.001 | anemia | Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribu... | BeFree | 17466092 | Detail |
| 0.337 | tuberculosis | To explore the potential role of these genes in the susceptibility to pulmonary ... | BeFree | 17493019 | Detail |
| <0.001 | anemia | Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribu... | BeFree | 17466092 | Detail |
| <0.001 | leprosy | The polymorphisms of TNF alpha at -238, -308, and NRAMP1 at INT4, D543N, and3' U... | BeFree | 17624216 | Detail |
| 0.002 | tuberculosis | To test this possibility, we examined NRAMP1 variants at the INT4 and D543N loci... | BeFree | 15825023 | Detail |
| 0.002 | Tuberculosis, Pulmonary | The aim of this study was to evaluate the role of three polymorphisms (D543N, TG... | BeFree | 21710855 | Detail |
| <0.001 | silicosis | The aim of this study is to investigate the roles of AMs response-related genes ... | BeFree | 17223386 | Detail |
| 0.002 | Tuberculosis, Pulmonary | To test this possibility, we examined NRAMP1 variants at the INT4 and D543N loci... | BeFree | 15825023 | Detail |
| <0.001 | anemia | Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribu... | BeFree | 17466092 | Detail |
| <0.001 | Iron deficiency | Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribu... | BeFree | 17466092 | Detail |
| 0.002 | Mycobacterium Infections | Collectively, our results suggest an association of NRAMP1 3'-UTR and D543N poly... | BeFree | 22609013 | Detail |
| <0.001 | leprosy | The polymorphisms of TNF alpha at -238, -308, and NRAMP1 at INT4, D543N, and3' U... | BeFree | 17624216 | Detail |
| 0.337 | tuberculosis | Among the subjects, D543N NRAMP1 polymorphism, history of contact with TB patien... | BeFree | 25596570 | Detail |
| 0.002 | tuberculosis | Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribu... | BeFree | 17466092 | Detail |
| <0.001 | silicosis | No association of other polymorphisms (NRAMP1 D543N, TNF-alpha-308) and suscepti... | BeFree | 17223386 | Detail |
| 0.002 | Tuberculosis, Pulmonary | The aim of this study was to evaluate the role of three polymorphisms (D543N, TG... | BeFree | 21710855 | Detail |
| 0.002 | tuberculosis | Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribu... | BeFree | 17466092 | Detail |
| 0.002 | tuberculosis | In Meta-analysis, significant associations were observed between tuberculosis ri... | BeFree | 21283567 | Detail |
| <0.001 | rheumatoid arthritis | We analysed four NRAMP1 gene polymorphisms including 5' promoter (GT)(n) (rs3444... | BeFree | 19055603 | Detail |
| <0.001 | silicosis | The aim of this study is to investigate the roles of AMs response-related genes ... | BeFree | 17223386 | Detail |
| <0.001 | Tuberculosis, Miliary | No association of SLC11A1 with miliary TB was observed, and a possible associati... | BeFree | 16461017 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribute to severity of an... | DisGeNET | Detail |
| Susceptibility to Buruli ulcer is associated with the SLC11A1 (NRAMP1) D543N polymorphism. | DisGeNET | Detail |
| To study the variations in the NRAMP1 gene using five genotypes (274C/T, 577-18G/A, A318V, D543N and... | DisGeNET | Detail |
| To test this possibility, we examined NRAMP1 variants at the INT4 and D543N loci, as well as their a... | DisGeNET | Detail |
| In Meta-analysis, significant associations were observed between tuberculosis risk and widely studie... | DisGeNET | Detail |
| To determine the association of Nramp1/Slc11a1 with tuberculosis and leprosy, we analyzed using poly... | DisGeNET | Detail |
| To test this possibility, we examined NRAMP1 variants at the INT4 and D543N loci, as well as their a... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribute to severity of an... | DisGeNET | Detail |
| To explore the potential role of these genes in the susceptibility to pulmonary tuberculosis in a Me... | DisGeNET | Detail |
| Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribute to severity of an... | DisGeNET | Detail |
| The polymorphisms of TNF alpha at -238, -308, and NRAMP1 at INT4, D543N, and3' UTR were examined in ... | DisGeNET | Detail |
| To test this possibility, we examined NRAMP1 variants at the INT4 and D543N loci, as well as their a... | DisGeNET | Detail |
| The aim of this study was to evaluate the role of three polymorphisms (D543N, TGTG deletion in 3' UT... | DisGeNET | Detail |
| The aim of this study is to investigate the roles of AMs response-related genes TNF-alpha, iNOS, and... | DisGeNET | Detail |
| To test this possibility, we examined NRAMP1 variants at the INT4 and D543N loci, as well as their a... | DisGeNET | Detail |
| Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribute to severity of an... | DisGeNET | Detail |
| Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribute to severity of an... | DisGeNET | Detail |
| Collectively, our results suggest an association of NRAMP1 3'-UTR and D543N polymorphisms with susce... | DisGeNET | Detail |
| The polymorphisms of TNF alpha at -238, -308, and NRAMP1 at INT4, D543N, and3' UTR were examined in ... | DisGeNET | Detail |
| Among the subjects, D543N NRAMP1 polymorphism, history of contact with TB patients, and not having a... | DisGeNET | Detail |
| Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribute to severity of an... | DisGeNET | Detail |
| No association of other polymorphisms (NRAMP1 D543N, TNF-alpha-308) and susceptibility to silicosis ... | DisGeNET | Detail |
| The aim of this study was to evaluate the role of three polymorphisms (D543N, TGTG deletion in 3' UT... | DisGeNET | Detail |
| Iron deficiency and NRAMP1 polymorphisms (INT4, D543N and 3'UTR) do not contribute to severity of an... | DisGeNET | Detail |
| In Meta-analysis, significant associations were observed between tuberculosis risk and widely studie... | DisGeNET | Detail |
| We analysed four NRAMP1 gene polymorphisms including 5' promoter (GT)(n) (rs34448891), INT4 (469 + 1... | DisGeNET | Detail |
| The aim of this study is to investigate the roles of AMs response-related genes TNF-alpha, iNOS, and... | DisGeNET | Detail |
| No association of SLC11A1 with miliary TB was observed, and a possible association of D543N to the p... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr2:219,259,732-219,259,732
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1204
- Mean of sample read depth (HGVD)
- 103.79
- Standard deviation of sample read depth (HGVD)
- 51.38
- Number of reference allele (HGVD)
- 2176
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.5934772622875517E-4
- Gene Symbol (HGVD)
- SLC11A1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- East Asian Chromosome Counts (ExAC)
- 6478
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 84154
- Allele Counts in All Race (ExAC)
- 1
- Allele Frequency in All Race (ExAC)
- 1.188297644794068E-5
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