chr1:7858135:G>C Detail (hg19) (PER3)

Information

Genome

Assembly Position
hg19 chr1:7,858,135-7,858,135
hg38 chr1:7,798,075-7,798,075 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001289861.1:c.645-450G>C
NM_001289863.1:c.645-450G>C
NM_016831.2:c.642-450G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.034
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 603427 OMIM
HGNC 8847 HGNC
Ensembl ENSG00000049246 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv256706 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
<0.001 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.003 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.002 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
<0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.001 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 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 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.002 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.001 prostate carcinoma Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.003 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.009 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 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
0.002 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 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
0.002 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.003 breast carcinoma In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 Detail
0.003 Malignant neoplasm of prostate Our results showed that at least one SNP in nine core circadian genes (rs885747 ... BeFree 19934327 Detail
0.002 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 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 Malignant neoplasm of breast In women with three consecutive night shifts, a reduced risk of breast cancer wa... BeFree 23822714 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
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... 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
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... 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
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... DisGeNET Detail
Our results showed that at least one SNP in nine core circadian genes (rs885747 and rs2289591 in PER... DisGeNET Detail
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... 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
rs1012477 dbSNP
Genome
hg19
Position
chr1:7,858,135-7,858,135
Variant Type
snv
Reference Allele
G
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))
rs1012477
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0335
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
561
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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