chr14:54410919:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr14:54,410,919-54,410,919
hg38 chr14:53,944,201-53,944,201 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.612
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
0.004 colorectal carcinoma Our findings demonstrated that BMP4-rs4444235 is a risk factor associated with i... BeFree 25647270 Detail
0.013 colorectal cancer [We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, B... GAD 19011631 Detail
0.004 colorectal carcinoma Allele-specific expression studies in CRC cell lines heterozygous for rs4444235 ... BeFree 22158048 Detail
0.013 colorectal cancer The common variant rs4444235 near BMP4 confers genetic susceptibility of colorec... BeFree 24932582 Detail
0.013 colorectal cancer Our findings demonstrated that BMP4-rs4444235 is a risk factor associated with i... BeFree 25647270 Detail
0.004 colorectal carcinoma The common variant rs4444235 near BMP4 confers genetic susceptibility of colorec... BeFree 24932582 Detail
0.013 colorectal cancer Allele-specific expression studies in CRC cell lines heterozygous for rs4444235 ... BeFree 22158048 Detail
<0.001 colorectal carcinoma We observed an association between the low colorectal cancer risk allele (A) for... BeFree 22363440 Detail
<0.001 colorectal cancer We observed an association between the low colorectal cancer risk allele (A) for... BeFree 22363440 Detail
<0.001 colorectal cancer We observed an association between the low colorectal cancer risk allele (A) for... BeFree 22363440 Detail
<0.001 colorectal carcinoma We observed an association between the low colorectal cancer risk allele (A) for... BeFree 22363440 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
0.004 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
Our findings demonstrated that BMP4-rs4444235 is a risk factor associated with increased CRC and CRA... DisGeNET Detail
[We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-1... DisGeNET Detail
Allele-specific expression studies in CRC cell lines heterozygous for rs4444235 showed significantly... DisGeNET Detail
The common variant rs4444235 near BMP4 confers genetic susceptibility of colorectal cancer: an updat... DisGeNET Detail
Our findings demonstrated that BMP4-rs4444235 is a risk factor associated with increased CRC and CRA... DisGeNET Detail
The common variant rs4444235 near BMP4 confers genetic susceptibility of colorectal cancer: an updat... DisGeNET Detail
Allele-specific expression studies in CRC cell lines heterozygous for rs4444235 showed significantly... DisGeNET Detail
We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14... DisGeNET Detail
We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14... DisGeNET Detail
We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14... DisGeNET Detail
We observed an association between the low colorectal cancer risk allele (A) for rs10795668 at 10p14... 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
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
rs4444235 dbSNP
Genome
hg19
Position
chr14:54,410,919-54,410,919
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))
rs4444235
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6122
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10260
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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