chr3:133484029:G>A Detail (hg19) (TF)

Information

Genome

Assembly Position
hg19 chr3:133,484,029-133,484,029
hg38 chr3:133,765,185-133,765,185 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001063.3:c.1330+278G>A
Ensemble ENST00000402696.9:c.1330+278G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.468
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 190000 OMIM
HGNC 11740 HGNC
Ensembl ENSG00000091513 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv14292844 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
0.003 iron deficiency anemia To evaluate the association of genetic variants in genes involved in iron delive... BeFree 22323359 Detail
<0.001 Liver neoplasms Intronic SNP rs3811647 of the human transferrin gene modulates its expression in... BeFree 23588470 Detail
<0.001 Autonomic nervous system disorders Because these two outcomes were clearly associated with the biochemical and clin... BeFree 25457201 Detail
0.205 Hereditary hemochromatosis Because these two outcomes were clearly associated with the biochemical and clin... BeFree 25457201 Detail
<0.001 liver carcinoma Intronic SNP rs3811647 of the human transferrin gene modulates its expression in... BeFree 23588470 Detail
Annotation

Annotations

DescrptionSourceLinks
To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regu... DisGeNET Detail
Intronic SNP rs3811647 of the human transferrin gene modulates its expression in hepatoma cells. DisGeNET Detail
Because these two outcomes were clearly associated with the biochemical and clinical expression of t... DisGeNET Detail
Because these two outcomes were clearly associated with the biochemical and clinical expression of t... DisGeNET Detail
Intronic SNP rs3811647 of the human transferrin gene modulates its expression in hepatoma cells. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3811647 dbSNP
Genome
hg19
Position
chr3:133,484,029-133,484,029
Variant Type
snv
Reference Allele
G
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))
rs3811647
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4675
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7836
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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