chr8:127091692:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr8:128,103,937-128,103,937 View the variant detail on this assembly version.
hg38 chr8:127,091,692-127,091,692

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.344
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
0.003 Malignant neoplasm of prostate These included correlations between an intergenic CpG site at Chr8:128393157 and... BeFree 25315430 Detail
<0.001 colorectal carcinoma These included correlations between an intergenic CpG site at Chr8:128393157 and... BeFree 25315430 Detail
0.121 Malignant neoplasm of prostate Genome-wide association study identifies five new susceptibility loci for prosta... GWASCAT 20676098 Detail
<0.001 colorectal cancer These included correlations between an intergenic CpG site at Chr8:128393157 and... BeFree 25315430 Detail
0.121 Malignant neoplasm of prostate Genome-wide association study in Chinese men identifies two new prostate cancer ... GWASCAT 23023329 Detail
<0.001 colorectal cancer These included correlations between an intergenic CpG site at Chr8:128393157 and... BeFree 25315430 Detail
0.001 prostate carcinoma These included correlations between an intergenic CpG site at Chr8:128393157 and... BeFree 25315430 Detail
0.121 Malignant neoplasm of prostate These included correlations between an intergenic CpG site at Chr8:128393157 and... BeFree 25315430 Detail
<0.001 prostate carcinoma These included correlations between an intergenic CpG site at Chr8:128393157 and... BeFree 25315430 Detail
<0.001 colorectal carcinoma These included correlations between an intergenic CpG site at Chr8:128393157 and... BeFree 25315430 Detail
Annotation

Annotations

DescrptionSourceLinks
These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... DisGeNET Detail
These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... DisGeNET Detail
Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Jap... DisGeNET Detail
These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... DisGeNET Detail
Genome-wide association study in Chinese men identifies two new prostate cancer risk loci at 9q31.2 ... DisGeNET Detail
These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... DisGeNET Detail
These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... DisGeNET Detail
These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... DisGeNET Detail
These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... DisGeNET Detail
These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer... 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
rs1456315 dbSNP
Genome
hg38
Position
chr8:127,091,692-127,091,692
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))
rs1456315
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3437
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5761
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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