chr14:64763653:A>G Detail (hg19) (ESR2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:64,763,653-64,763,653 |
hg38 | chr14:64,296,935-64,296,935 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001291712.1:c.-91+598T>C | |
NM_001291723.1:c.-90-13860T>C | ||
Ensemble | ENST00000554572.5:c.-91+598T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.278 | |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.017 | breast carcinoma | We examined the association of single nucleotide polymorphism (SNP) in estrogen ... | BeFree | 24430361 | Detail |
0.097 | Malignant neoplasm of breast | We examined the association of single nucleotide polymorphism (SNP) in estrogen ... | BeFree | 24430361 | Detail |
0.068 | Malignant neoplasm of breast | We examined the association of single nucleotide polymorphism (SNP) in estrogen ... | BeFree | 24430361 | Detail |
0.030 | breast carcinoma | We examined the association of single nucleotide polymorphism (SNP) in estrogen ... | BeFree | 24430361 | Detail |
0.002 | Sporadic Breast Carcinoma | With regard to homozygous genotypes, women with sporadic breast cancer more freq... | BeFree | 19429453 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... | DisGeNET | Detail |
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... | DisGeNET | Detail |
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... | DisGeNET | Detail |
We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2... | DisGeNET | Detail |
With regard to homozygous genotypes, women with sporadic breast cancer more frequently carried the C... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs2987983 dbSNP
- Genome
- hg19
- Position
- chr14:64,763,653-64,763,653
- 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))
- rs2987983
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2777
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4654
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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