chr7:100638347:C>A Detail (hg38) (TFR2)

Information

Genome

Assembly Position
hg19 chr7:100,235,970-100,235,970 View the variant detail on this assembly version.
hg38 chr7:100,638,347-100,638,347

HGVS

Type Transcript Protein
RefSeq NM_003227.3:c.473+2339G>T
Ensemble ENST00000223051.8:c.473+2339G>T
ENST00000431692.5:c.473+2339G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.851
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 604720 OMIM
HGNC 11762 HGNC
Ensembl ENSG00000106327 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30318875 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
0.122 Hematocrit level [Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.] GAD 19862010 Detail
0.122 Hematocrit level Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GWASCAT 19862010 Detail
Annotation

Annotations

DescrptionSourceLinks
To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regu... DisGeNET Detail
[Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.] DisGeNET Detail
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7385804 dbSNP
Genome
hg38
Position
chr7:100,638,347-100,638,347
Variant Type
snv
Reference Allele
C
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))
rs7385804
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8511
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14262
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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