chr6:36652339:C>T Detail (hg19) (CDKN1A)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr6:36,652,339-36,652,339
hg38	chr6:36,684,562-36,684,562 View the variant detail on this assembly version.

HGVS

CDKN1A

Type	Transcript	Protein
RefSeq	NM_000389.4:c.445+16C>T
	NM_001220778.1:c.445+16C>T
	NM_001291549.1:c.445+16C>T
	NM_078467.2:c.445+16C>T
	NM_001220777.1:c.445+16C>T
Ensemble	ENST00000244741.10:c.445+16C>T
	ENST00000373711.3:c.445+16C>T
	ENST00000405375.5:c.445+16C>T
	ENST00000448526.6:c.445+16C>T
	ENST00000615513.4:c.445+16C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

CDKN1A

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	esophageal carcinoma	p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with ...	BeFree	24820515	Detail
0.001	Malignant neoplasm of esophagus	p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with ...	BeFree	24820515	Detail
<0.001	Esophageal Neoplasms	p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with ...	BeFree	24820515	Detail
<0.001	Squamous cell carcinoma of esophagus	p21 rs3176352 G>C and p73 rs1801173 C>T SNPs are associated with increased...	BeFree	24820515	Detail
<0.001	cervix carcinoma	The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs105...	BeFree	23231583	Detail
<0.001	Malignant tumor of cervix	The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs105...	BeFree	23231583	Detail

Annotation

Annotations

Descrption	Source	Links
p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with an increased risk of...	DisGeNET	Detail
p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with an increased risk of...	DisGeNET	Detail
p21 rs3176352 G>C and p73 rs1801173 C>T polymorphisms are associated with an increased risk of...	DisGeNET	Detail
p21 rs3176352 G>C and p73 rs1801173 C>T SNPs are associated with increased risk of ESCC.	DisGeNET	Detail
The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs1059234) also provided ...	DisGeNET	Detail
The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs1059234) also provided ...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg19
Position: chr6:36,652,339-36,652,339
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8542
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1706860220088972E-4
Chromosome Counts in All Race (ExAC): 119548
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.3459363602904275E-5

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