chr14:64301584:C>A Detail (hg38) (ESR2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

ESR2

Type	Transcript	Protein
RefSeq	NM_001291723.1:c.-90-18509G>T
	NM_001291712.1:c.-583-4G>T
Ensemble	ENST00000358599.9:c.-90-18509G>T
	ENST00000554572.5:c.-583-4G>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

ESR2

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
	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

Descrption	Source	Links
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: hg38
Position: chr14:64,301,584-64,301,584
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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