chr2:218385280:G>T Detail (hg38) (SLC11A1)

Information

Genome

Assembly Position
hg19 chr2:219,250,003-219,250,003 View the variant detail on this assembly version.
hg38 chr2:218,385,280-218,385,280

HGVS

Type Transcript Protein
RefSeq NM_000578.3:c.393+14G>T
Ensemble ENST00000233202.11:c.393+14G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
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 tgv248441464 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
<0.001 rheumatoid arthritis We analysed four NRAMP1 gene polymorphisms including 5' promoter (GT)(n) (rs3444... BeFree 19055603 Detail
<0.001 Active tuberculosis Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes d... BeFree 19723394 Detail
<0.001 Active tuberculosis Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes d... BeFree 19723394 Detail
<0.001 Active tuberculosis SLC11A1 polymorphism rs3731865 was associated with TB in African-Americans, cons... BeFree 19723394 Detail
Annotation

Annotations

DescrptionSourceLinks
We analysed four NRAMP1 gene polymorphisms including 5' promoter (GT)(n) (rs34448891), INT4 (469 + 1... DisGeNET Detail
Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes detected interactions... DisGeNET Detail
Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes detected interactions... DisGeNET Detail
SLC11A1 polymorphism rs3731865 was associated with TB in African-Americans, consistent with previous... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr2:218,385,280-218,385,280
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121022
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.436664408124142E-5
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