chr6:151951220:A>G Detail (hg19) (CCDC170)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:151,951,220-151,951,220 |
| hg38 | chr6:151,630,085-151,630,085 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.236 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2014-03-01 | no assertion criteria provided | Estrogen resistance syndrome |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Malignant neoplasm of breast | Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have b... | BeFree | 21593217 | Detail |
| 0.080 | breast carcinoma | Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have b... | BeFree | 21593217 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000006.12:g.151630085A>G AND Estrogen resistance syndrome | ClinVar | Detail |
| Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in th... | DisGeNET | Detail |
| Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in th... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs9397435 dbSNP
- Genome
- hg19
- Position
- chr6:151,951,220-151,951,220
- 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))
- rs9397435
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2356
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3949
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser