chr2:218395009:G>C Detail (hg38) (SLC11A1)

Information

Genome

Assembly Position
hg19 chr2:219,259,732-219,259,732 View the variant detail on this assembly version.
hg38 chr2:218,395,009-218,395,009

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
Links
Type Database ID Link
Gene MIM 600266 OMIM
HGNC 10907 HGNC
Ensembl ENSG00000018280 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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
hg38
Position
chr2:218,395,009-218,395,009
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
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
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.188297644794068E-5
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