chr8:116618444:A>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr8:117,630,683-117,630,683 View the variant detail on this assembly version.
hg38 chr8:116,618,444-116,618,444

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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
0.005 Colorectal Neoplasms [A genome-wide association study identifies colorectal cancer susceptibility loc... GAD 18372905 Detail
0.005 Colorectal Neoplasms [Meta-analysis of new genome-wide association studies of colorectal cancer risk.... GAD 21761138 Detail
0.010 colorectal cancer [In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we ... GAD 18372905 Detail
<0.001 colorectal carcinoma In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we i... BeFree 18372905 Detail
0.010 colorectal cancer In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we i... BeFree 18372905 Detail
0.014 Malignant tumor of colon A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... BeFree 23434150 Detail
0.009 colorectal carcinoma We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
0.013 colorectal cancer We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
0.003 colon carcinoma A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... BeFree 23434150 Detail
0.006 Malignant tumor of colon A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... BeFree 23434150 Detail
0.008 colorectal carcinoma We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
0.010 colorectal cancer We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
0.004 colorectal carcinoma We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
0.126 colorectal cancer We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
0.004 Malignant tumor of colon A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... BeFree 23434150 Detail
0.162 colorectal cancer We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
0.004 colorectal cancer We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
0.003 colorectal carcinoma We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
<0.001 colorectal carcinoma We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
0.005 colon carcinoma A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... BeFree 23434150 Detail
0.011 colon carcinoma A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... BeFree 23434150 Detail
0.171 colorectal cancer We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
0.002 colorectal carcinoma We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... BeFree 22367214 Detail
Annotation

Annotations

DescrptionSourceLinks
[A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p... DisGeNET Detail
[Meta-analysis of new genome-wide association studies of colorectal cancer risk.] DisGeNET Detail
[In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previ... DisGeNET Detail
In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previo... DisGeNET Detail
In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previo... DisGeNET Detail
A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... DisGeNET Detail
A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... DisGeNET Detail
A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... DisGeNET Detail
Gene
-
dbSNP
rs16892766 dbSNP
Genome
hg38
Position
chr8:116,618,444-116,618,444
Variant Type
snv
Reference Allele
A
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))
rs16892766
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16734
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