chr12:51406354:T>A Detail (hg19) (SLC11A2)

Information

Genome

Assembly Position
hg19 chr12:51,406,354-51,406,354
hg38 chr12:51,012,571-51,012,571 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001174129.1:c.-38-1805A>T
NM_001174125.1:c.50-1805A>T
NM_000617.2:c.-38-1805A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.888
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
Type Database ID Link
Gene MIM 600523 OMIM
HGNC 10908 HGNC
Ensembl ENSG00000110911 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45850540 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
0.007 Hereditary hemochromatosis Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
Annotation

Annotations

DescrptionSourceLinks
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs422982 dbSNP
Genome
hg19
Position
chr12:51,406,354-51,406,354
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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))
rs422982
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8876
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14877
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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