chr17:8050737:G>T Detail (hg19) (PER1)

Information

Genome

Assembly Position
hg19 chr17:8,050,737-8,050,737
hg38 chr17:8,147,419-8,147,419 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002616.2:c.1498-38C>A
Ensemble ENST00000354903.9:c.1450-38C>A
ENST00000317276.9:c.1498-38C>A
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
Type Database ID Link
Gene MIM 602260 OMIM
HGNC 8845 HGNC
Ensembl ENSG00000179094 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 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
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
-
Genome
hg19
Position
chr17:8,050,737-8,050,737
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8524
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)
117124
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.5613879307400703E-5
Genome browser