chr6:152104447:A>G Detail (hg38) (ESR1)

Information

Genome

Assembly Position
hg19 chr6:152,425,582-152,425,582 View the variant detail on this assembly version.
hg38 chr6:152,104,447-152,104,447

HGVS

Type Transcript Protein
RefSeq NM_001328100.1:c.851-20819A>G
Ensemble ENST00000427531.6:c.851-20819A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.152
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 133430 OMIM
HGNC 3467 HGNC
Ensembl ENSG00000091831 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27500771 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 HIV Infections To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
0.003 Metabolic syndrome X To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
0.007 Metabolic syndrome X To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
<0.001 HIV Infections To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen recept... BeFree 22011627 Detail
<0.001 lipodystrophy Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associati... BeFree 22011627 Detail
<0.001 Lipoatrophy Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associati... BeFree 22011627 Detail
<0.001 Lipoatrophy Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associati... BeFree 22011627 Detail
<0.001 lipodystrophy Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associati... BeFree 22011627 Detail
Annotation

Annotations

DescrptionSourceLinks
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
To investigate genetic single nucleotide polymorphisms (SNPs) in estrogen receptor-α (ERα) (ESR1, rs... DisGeNET Detail
Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropomet... DisGeNET Detail
Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropomet... DisGeNET Detail
Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropomet... DisGeNET Detail
Moreover, the ESR1 gene (rs2813544) presented significant sex-specific associations with anthropomet... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2813544 dbSNP
Genome
hg38
Position
chr6:152,104,447-152,104,447
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2813544
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1516
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2541
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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