chr9:107322047:C>T Detail (hg38) (RAD23B)

Information

Genome

Assembly Position
hg19 chr9:110,084,328-110,084,328 View the variant detail on this assembly version.
hg38 chr9:107,322,047-107,322,047

HGVS

Type Transcript Protein
RefSeq NM_001244713.1:c.746C>T NP_001231642.1:p.Ala249Val
NM_002874.4:c.746C>T NP_002865.1:p.Ala249Val
NM_001244724.1:c.530C>T NP_001231653.1:p.Ala177Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.161
ToMMo:0.173
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.197

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600062 OMIM
HGNC 9813 HGNC
Ensembl ENSG00000119318 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37175081 TogoVar
COSMIC COSM3763503 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.010 Malignant neoplasm of urinary bladder In multifactor dimensionality reduction (MDR) analysis, the five-factor model in... BeFree 17728339 Detail
0.084 Malignant neoplasm of urinary bladder In multifactor dimensionality reduction (MDR) analysis, the five-factor model in... BeFree 17728339 Detail
<0.001 Carcinoma of bladder In multifactor dimensionality reduction (MDR) analysis, the five-factor model in... BeFree 17728339 Detail
0.005 Carcinoma of bladder In multifactor dimensionality reduction (MDR) analysis, the five-factor model in... BeFree 17728339 Detail
0.001 Carcinoma of bladder In classification and regression tree analysis, we observed gene-gene interactio... BeFree 17728339 Detail
0.003 Malignant neoplasm of esophagus Further, the CT genotype of the RAD23B Ala249Val was associated with increased e... BeFree 19270000 Detail
<0.001 Esophageal Neoplasms Further, the CT genotype of the RAD23B Ala249Val was associated with increased e... BeFree 19270000 Detail
0.003 Esophageal Neoplasms Further, the CT genotype of the RAD23B Ala249Val was associated with increased e... BeFree 19270000 Detail
<0.001 esophageal carcinoma Further, the CT genotype of the RAD23B Ala249Val was associated with increased e... BeFree 19270000 Detail
0.015 Malignant neoplasm of urinary bladder In classification and regression tree analysis, we observed gene-gene interactio... BeFree 17728339 Detail
<0.001 esophageal carcinoma Further, the CT genotype of the RAD23B Ala249Val was associated with increased e... BeFree 19270000 Detail
0.005 Malignant neoplasm of esophagus Further, the CT genotype of the RAD23B Ala249Val was associated with increased e... BeFree 19270000 Detail
0.005 Malignant neoplasm of urinary bladder In classification and regression tree analysis, we observed gene-gene interactio... BeFree 17728339 Detail
<0.001 Carcinoma of bladder In classification and regression tree analysis, we observed gene-gene interactio... BeFree 17728339 Detail
<0.001 Hepatocarcinogenesis These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD... BeFree 22004425 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.008 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
0.003 Lymphoma, Follicular The following genotypes in combination with hair dye use before 1980 were associ... BeFree 25178586 Detail
Annotation

Annotations

DescrptionSourceLinks
In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCN... DisGeNET Detail
In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCN... DisGeNET Detail
In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCN... DisGeNET Detail
In multifactor dimensionality reduction (MDR) analysis, the five-factor model including smoking, CCN... DisGeNET Detail
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... DisGeNET Detail
Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer ris... DisGeNET Detail
Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer ris... DisGeNET Detail
Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer ris... DisGeNET Detail
Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer ris... DisGeNET Detail
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... DisGeNET Detail
Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer ris... DisGeNET Detail
Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer ris... DisGeNET Detail
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... DisGeNET Detail
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... DisGeNET Detail
These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD23B rs1805329, CEP16... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... DisGeNET Detail
The following genotypes in combination with hair dye use before 1980 were associated with FL risk: B... 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
hg38
Position
chr9:107,322,047-107,322,047
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1155
Mean of sample read depth (HGVD)
36.95
Standard deviation of sample read depth (HGVD)
17.51
Number of reference allele (HGVD)
1939
Number of alternative allele (HGVD)
371
Allele Frequency (HGVD)
0.1606060606060606
Gene Symbol (HGVD)
RAD23B
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))
rs1805329
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.173
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2899
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8622
East Asian Allele Counts (ExAC)
1698
East Asian Heterozygous Counts (ExAC)
1368
East Asian Homozygous Counts (ExAC)
165
East Asian Allele Frequency (ExAC)
0.19693806541405706
Chromosome Counts in All Race (ExAC)
121160
Allele Counts in All Race (ExAC)
23659
Heterozygous Counts in All Race (ExAC)
18441
Homozygous Counts in All Race (ExAC)
2609
Allele Frequency in All Race (ExAC)
0.19527071640805546
Genome browser