chr20:6423634:C>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr20:6,404,281-6,404,281 View the variant detail on this assembly version.
hg38 chr20:6,423,634-6,423,634

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.109
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
0.014 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
0.004 colorectal carcinoma We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BM... BeFree 19011631 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
0.013 colorectal cancer We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BM... BeFree 19011631 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 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
We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10... 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 identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10... 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
rs961253 dbSNP
Genome
hg38
Position
chr20:6,423,634-6,423,634
Variant Type
snv
Reference Allele
C
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))
rs961253
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1092
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1831
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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