chr5:150141675:G>A Detail (hg38) (PDGFRB)

Information

Genome

Assembly Position
hg19 chr5:149,521,238-149,521,238 View the variant detail on this assembly version.
hg38 chr5:150,141,675-150,141,675

HGVS

Type Transcript Protein
RefSeq NM_002609.3:c.-6-4622C>T
Ensemble ENST00000261799.9:c.-6-4622C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.152
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 173410 OMIM
HGNC 8804 HGNC
Ensembl ENSG00000113721 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23240383 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 gastroesophageal reflux disease In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 gastroesophageal reflux disease In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 gastroesophageal reflux disease In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
<0.001 Adenocarcinoma Of Esophagus In subsequent logistic regression analyses, interactions between 2 SNPs (rs22957... BeFree 21751195 Detail
Annotation

Annotations

DescrptionSourceLinks
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail
In subsequent logistic regression analyses, interactions between 2 SNPs (rs2295778 of HIF1AN, rs1333... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs17708574 dbSNP
Genome
hg38
Position
chr5:150,141,675-150,141,675
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs17708574
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1515
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2539
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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