chr9:125241745:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr9:128,004,024-128,004,024 View the variant detail on this assembly version.
hg38 chr9:125,241,745-125,241,745

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.657
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 colorectal cancer GRP78 promoter polymorphism rs391957 as potential predictor for clinical outcome... BeFree 21382870 Detail
0.131 liver carcinoma The rs391957 variant cis-regulating oncogene GRP78 expression contributes to the... BeFree 23416888 Detail
<0.001 gastric adenocarcinoma These data provide the first evidence that the GRP78 rs391957 polymorphism can p... BeFree 21382870 Detail
0.002 colorectal carcinoma GRP78 promoter polymorphism rs391957 as potential predictor for clinical outcome... BeFree 21382870 Detail
0.001 liver carcinoma These findings provided new insights into the pathogenesis of HCC and an unexpec... BeFree 23416888 Detail
0.002 colorectal cancer These data provide the first evidence that GRP78 rs391957 and rs430397 polymorph... BeFree 23818965 Detail
<0.001 Recurrent tumor GA patients with the combined GRP78 rs391957 C/T and T/T genotype were at higher... BeFree 21382870 Detail
<0.001 Hepatocarcinogenesis These findings provided new insights into the pathogenesis of HCC and an unexpec... BeFree 23416888 Detail
0.002 colorectal carcinoma These data provide the first evidence that GRP78 rs391957 and rs430397 polymorph... BeFree 23818965 Detail
Annotation

Annotations

DescrptionSourceLinks
GRP78 promoter polymorphism rs391957 as potential predictor for clinical outcome in gastric and colo... DisGeNET Detail
The rs391957 variant cis-regulating oncogene GRP78 expression contributes to the risk of hepatocellu... DisGeNET Detail
These data provide the first evidence that the GRP78 rs391957 polymorphism can predict clinical outc... DisGeNET Detail
GRP78 promoter polymorphism rs391957 as potential predictor for clinical outcome in gastric and colo... DisGeNET Detail
These findings provided new insights into the pathogenesis of HCC and an unexpected effect of the in... DisGeNET Detail
These data provide the first evidence that GRP78 rs391957 and rs430397 polymorphisms could serve as ... DisGeNET Detail
GA patients with the combined GRP78 rs391957 C/T and T/T genotype were at higher risk for tumor recu... DisGeNET Detail
These findings provided new insights into the pathogenesis of HCC and an unexpected effect of the in... DisGeNET Detail
These data provide the first evidence that GRP78 rs391957 and rs430397 polymorphisms could serve as ... 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
-
dbSNP
rs391957 dbSNP
Genome
hg38
Position
chr9:125,241,745-125,241,745
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))
rs391957
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6569
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11010
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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