chr22:38695099:T>C Detail (hg19) (CSNK1E, TPTEP2-CSNK1E)

Information

Genome

Assembly Position
hg19 chr22:38,695,099-38,695,099
hg38 chr22:38,299,094-38,299,094 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001894.4:c.737-160A>G
NM_152221.2:c.737-160A>G
Ensemble ENST00000359867.7:c.737-160A>G
Type Transcript Protein
RefSeq NM_001289912.1:c.737-160A>G
Ensemble ENST00000400206.7:c.737-160A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.916
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 600863 OMIM
HGNC 2453 HGNC
Ensembl ENSG00000213923 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65928509 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 53829 HGNC
Ensembl ENSG00000283900 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65928509 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
0.005 bipolar disorder A multi-locus interaction between rs6442925 in the 5' upstream of BHLHB2, rs1534... BeFree 18228528 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.005 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.003 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.005 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.006 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.005 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.003 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.003 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.003 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
Annotation

Annotations

DescrptionSourceLinks
A multi-locus interaction between rs6442925 in the 5' upstream of BHLHB2, rs1534891 in CSNK1E, and r... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1534891 dbSNP
Genome
hg19
Position
chr22:38,695,099-38,695,099
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))
rs1534891
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9161
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15353
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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