chr16:68820946:G>A Detail (hg19) (CDH1)

Information

Genome

Assembly Position
hg19 chr16:68,820,946-68,820,946
hg38 chr16:68,787,043-68,787,043 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001317184.1:c.164-14627G>A
NM_001317186.1:c.164-14627G>A
NM_004360.4:c.164-14627G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.176
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 192090 OMIM
HGNC 1748 HGNC
Ensembl ENSG00000039068 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55925684 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-31 criteria provided, single submitter Hereditary diffuse gastric adenocarcinoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 colorectal cancer The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associate... BeFree 22363440 Detail
<0.001 colorectal carcinoma The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associate... BeFree 22363440 Detail
0.164 Colorectal Neoplasms [Meta-analysis of genome-wide association data identifies four new susceptibilit... GAD 19011631 Detail
<0.001 colorectal carcinoma The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associate... BeFree 22363440 Detail
0.171 colorectal cancer We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BM... GWASCAT 19011631 Detail
<0.001 colorectal cancer The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associate... 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
NM_004360.5(CDH1):c.164-14627G>A AND Hereditary diffuse gastric adenocarcinoma ClinVar Detail
The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associated with a significant... DisGeNET Detail
The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associated with a significant... DisGeNET Detail
[Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorecta... DisGeNET Detail
The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associated with a significant... DisGeNET Detail
We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10... DisGeNET Detail
The colorectal cancer low risk allele (A) for rs9929218 at 16q22.1 was associated with a significant... 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9929218 dbSNP
Genome
hg19
Position
chr16:68,820,946-68,820,946
Variant Type
snv
Reference Allele
G
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))
rs9929218
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1763
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2955
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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