chr14:64768302:C>T Detail (hg19) (ESR2)

Information

Genome

Assembly Position
hg19 chr14:64,768,302-64,768,302
hg38 chr14:64,301,584-64,301,584 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001291712.1:c.-583-4G>A
NM_001291723.1:c.-90-18509G>A
Ensemble ENST00000554572.5:c.-583-4G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.209
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 601663 OMIM
HGNC 3468 HGNC
Ensembl ENSG00000140009 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51070677 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 ovarian carcinoma Unconditional logistic regression was used to test associations of rs1271572, rs... BeFree 18704709 Detail
0.008 Malignant neoplasm of ovary Unconditional logistic regression was used to test associations of rs1271572, rs... BeFree 18704709 Detail
<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
Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, ... DisGeNET Detail
Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, ... 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
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
rs3020450 dbSNP
Genome
hg19
Position
chr14:64,768,302-64,768,302
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs3020450
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2088
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3500
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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