chr12:112817783:T>A Detail (hg19) (HECTD4)

Information

Genome

Assembly Position
hg19 chr12:112,817,783-112,817,783
hg38 chr12:112,379,979-112,379,979 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001109662.3:c.-256+1973A>T
Ensemble ENST00000377560.9:c.177+1973A>T
ENST00000682272.1:c.177+1973A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.213
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
Type Database ID Link
Gene MIM 620209 OMIM
HGNC 26611 HGNC
Ensembl ENSG00000173064 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47279975 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
<0.001 Malignant neoplasm of stomach C12orf5 rs11066280 could be useful marker of survival assessment and individuali... BeFree 25661349 Detail
0.120 Malignant neoplasm of esophagus Genome-wide association study identifies three new susceptibility loci for esoph... GWASCAT 21642993 Detail
0.120 Hypertensive disease Genome-wide association study in Chinese identifies novel loci for blood pressur... GWASCAT 25249183 Detail
<0.001 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
<0.001 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
0.125 Blood pressure finding Meta-analysis of genome-wide association studies identifies common variants asso... GWASCAT 21572416 Detail
0.125 Blood pressure finding [Meta-analysis of genome-wide association studies identifies common variants ass... GAD 21572416 Detail
<0.001 stomach carcinoma C12orf5 rs11066280 could be useful marker of survival assessment and individuali... BeFree 25661349 Detail
0.125 Systemic arterial pressure [Meta-analysis of genome-wide association studies identifies common variants ass... GAD 21572416 Detail
0.125 Systemic arterial pressure Meta-analysis of genome-wide association studies identifies common variants asso... GWASCAT 21572416 Detail
0.120 Metabolic syndrome X Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of ... GWASCAT 25705158 Detail
0.120 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
0.120 Coronary heart disease Genome-wide association study in Han Chinese identifies four new susceptibility ... GWASCAT 22751097 Detail
<0.001 Squamous cell carcinoma of esophagus Recent genome-wide association study (GWAS) on esophageal squamous-cell carcinom... BeFree 25661349 Detail
0.002 Esophageal Neoplasms [Genome-wide association study identifies three new susceptibility loci for esop... GAD 21642993 Detail
0.333 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
Annotation

Annotations

DescrptionSourceLinks
Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... DisGeNET Detail
C12orf5 rs11066280 could be useful marker of survival assessment and individualized clinical therapy... DisGeNET Detail
Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell ... DisGeNET Detail
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. DisGeNET Detail
Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... DisGeNET Detail
Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... DisGeNET Detail
Meta-analysis of genome-wide association studies identifies common variants associated with blood pr... DisGeNET Detail
[Meta-analysis of genome-wide association studies identifies common variants associated with blood p... DisGeNET Detail
C12orf5 rs11066280 could be useful marker of survival assessment and individualized clinical therapy... DisGeNET Detail
[Meta-analysis of genome-wide association studies identifies common variants associated with blood p... DisGeNET Detail
Meta-analysis of genome-wide association studies identifies common variants associated with blood pr... DisGeNET Detail
Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Res... DisGeNET Detail
Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... DisGeNET Detail
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary ar... DisGeNET Detail
Recent genome-wide association study (GWAS) on esophageal squamous-cell carcinoma (ESCC) among Chine... DisGeNET Detail
[Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell... DisGeNET Detail
Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11066280 dbSNP
Genome
hg19
Position
chr12:112,817,783-112,817,783
Variant Type
snv
Reference Allele
T
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))
rs11066280
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2135
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3578
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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