chr6:36681039:A>T Detail (hg38) (CDKN1A)

Information

Genome

Assembly Position
hg19 chr6:36,648,816-36,648,816 View the variant detail on this assembly version.
hg38 chr6:36,681,039-36,681,039

HGVS

Type Transcript Protein
RefSeq NM_000389.4:c.-6+2241A>T
NM_001220778.1:c.-6+2100A>T
NM_001291549.1:c.-5-3058A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.788
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
Type Database ID Link
Gene MIM 116899 OMIM
HGNC 1784 HGNC
Ensembl ENSG00000124762 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24980878 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
0.034 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
Annotation

Annotations

DescrptionSourceLinks
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3176336 dbSNP
Genome
hg38
Position
chr6:36,681,039-36,681,039
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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))
rs3176336
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7876
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13200
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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