chr4:107845794:C>A Detail (hg19) (DKK2)

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

Genome

Assembly	Position
hg19	chr4:107,845,794-107,845,794
hg38	chr4:106,924,637-106,924,637 View the variant detail on this assembly version.

HGVS

DKK2

Type	Transcript	Protein
RefSeq	NM_014421.2:c.437G>T	NP_055236.1:p.Arg146Leu
Ensemble	ENST00000285311.8:c.437G>T	ENST00000285311.8:p.Arg146Leu
	ENST00000510463.1:c.299G>T	ENST00000510463.1:p.Arg100Leu
	ENST00000513208.5:c.137G>T	ENST00000513208.5:p.Arg46Leu

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

DKK2

Type	Database	ID	Link
Gene	MIM	605415	OMIM
	HGNC	2892	HGNC
	Ensembl	ENSG00000155011	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	Neoplasm Metastasis	In addition, DKK3 rs1472189 cytosine/thymine (C/T) was associated with distant m...	BeFree	19562778	Detail
0.003	renal cell carcinoma	To the authors' knowledge, this is the first report documenting that DKK3 polymo...	BeFree	19562778	Detail
0.003	renal cell carcinoma	To the authors' knowledge, this is the first report documenting that DKK3 polymo...	BeFree	19562778	Detail
0.003	renal cell carcinoma	including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs170...	BeFree	19562778	Detail
0.003	renal cell carcinoma	including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs170...	BeFree	19562778	Detail

Annotation

Annotations

Descrption	Source	Links
In addition, DKK3 rs1472189 cytosine/thymine (C/T) was associated with distant metastasis, and, DKK2...	DisGeNET	Detail
To the authors' knowledge, this is the first report documenting that DKK3 polymorphisms are associat...	DisGeNET	Detail
To the authors' knowledge, this is the first report documenting that DKK3 polymorphisms are associat...	DisGeNET	Detail
including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs17037102], rs419558, an...	DisGeNET	Detail
including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs17037102], rs419558, an...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg19
Position: chr4:107,845,794-107,845,794
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8628
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121344
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.241033755274261E-6

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