chr11:11989899:T>C Detail (hg19) (DKK3)

Information

Genome

Assembly Position
hg19 chr11:11,989,899-11,989,899
hg38 chr11:11,968,352-11,968,352 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001330220.1:c.528+43A>G
NM_001018057.1:c.528+43A>G
NM_015881.5:c.528+43A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.720
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.723

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605416 OMIM
HGNC 2893 HGNC
Ensembl ENSG00000050165 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41645957 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
0.003 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

DescrptionSourceLinks
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

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2291599 dbSNP
Genome
hg19
Position
chr11:11,989,899-11,989,899
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))
rs2291599
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7195
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12058
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8366
East Asian Allele Counts (ExAC)
6045
East Asian Heterozygous Counts (ExAC)
1735
East Asian Homozygous Counts (ExAC)
2155
East Asian Allele Frequency (ExAC)
0.7225675352617739
Chromosome Counts in All Race (ExAC)
115082
Allele Counts in All Race (ExAC)
95524
Heterozygous Counts in All Race (ExAC)
15718
Homozygous Counts in All Race (ExAC)
39903
Allele Frequency in All Race (ExAC)
0.8300516153699101
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