chr9:21974218:A>G Detail (hg19) (CDKN2A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:21,974,218-21,974,218 |
hg38 | chr9:21,974,219-21,974,219 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000077.4:c.150+459T>C | |
NM_001195132.1:c.150+459T>C | ||
NM_058195.3:c.194-3011T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.154 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-01-10 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.034 | Malignant neoplasm of breast | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
0.016 | breast carcinoma | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
0.023 | breast carcinoma | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
0.043 | Malignant neoplasm of breast | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
0.004 | breast carcinoma | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
0.014 | Malignant neoplasm of breast | This approach found evidence for breast cancer-associated SNPs in four of the ce... | BeFree | 18174243 | Detail |
<0.001 | squamous cell carcinoma | In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs57... | BeFree | 23361049 | Detail |
0.012 | squamous cell carcinoma | In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs57... | BeFree | 23361049 | Detail |
0.001 | Malignant neoplasm of breast | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.001 | Carcinoma of bladder | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.001 | Carcinoma of lung | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.001 | Malignant neoplasm of lung | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.001 | Malignant neoplasm of urinary bladder | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.015 | Carcinoma of bladder | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
<0.001 | stomach carcinoma | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.001 | breast carcinoma | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.038 | Malignant neoplasm of lung | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
<0.001 | Malignant neoplasm of stomach | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.030 | Carcinoma of lung | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.023 | breast carcinoma | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.043 | Malignant neoplasm of breast | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
0.022 | Malignant neoplasm of urinary bladder | ASSET analyses identified four SNPs significantly associated with multiple cance... | BeFree | 25239644 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000077.5(CDKN2A):c.150+459T>C AND not provided | ClinVar | Detail |
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the ... | DisGeNET | Detail |
In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and r... | DisGeNET | Detail |
In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and r... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs3731239 dbSNP
- Genome
- hg19
- Position
- chr9:21,974,218-21,974,218
- 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))
- rs3731239
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1545
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2590
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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