chr6:81418669:T>C Detail (hg38)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:82,128,386-82,128,386 View the variant detail on this assembly version. |
hg38 | chr6:81,418,669-81,418,669 |
HGVS
[No Data.]
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.181 | |
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Malignant neoplasm of breast | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
<0.001 | breast carcinoma | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
0.120 | Malignant neoplasm of breast | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
0.023 | breast carcinoma | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
<0.001 | breast carcinoma | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
0.043 | Malignant neoplasm of breast | Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCD... | BeFree | 23593120 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
Three additional SNPs, including rs1011970 (9p21/CDKN2A/2B), rs941764 (14q32/CCDC88C), and rs1752911... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs17529111 dbSNP
- Genome
- hg38
- Position
- chr6:81,418,669-81,418,669
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs17529111
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1805
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3025
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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