chr6:31652743:T>G Detail (hg38) (APOM)

Information

Genome

Assembly Position
hg19 chr6:31,620,520-31,620,520 View the variant detail on this assembly version.
hg38 chr6:31,652,743-31,652,743

HGVS

Type Transcript Protein
RefSeq NM_001256169.1:c.-103+192T>G
NR_045828.1:c.-103+192T>G
Ensemble ENST00000375918.6:c.-103+192T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 606907 OMIM
HGNC 13916 HGNC
Ensembl ENSG00000204444 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv202100354 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 Smoker's lung To examine if variation at any of these loci influences the risk of lung cancer ... BeFree 19955392 Detail
<0.001 Non-small cell lung carcinoma Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell ... BeFree 25884493 Detail
0.133 Malignant neoplasm of lung [Common 5p15.33 and 6p21.33 variants influence lung cancer risk.] GAD 18978787 Detail
0.133 Malignant neoplasm of lung [Deciphering the impact of common genetic variation on lung cancer risk: a genom... GAD 19654303 Detail
0.133 Malignant neoplasm of lung We found also that BAG6 rs3117582 SNP was associated with non small cell lung ca... BeFree 25884493 Detail
0.122 Adenocarcinoma of lung (disorder) A genome-wide association study of lung cancer identifies a region of chromosome... GWASCAT 19836008 Detail
0.120 Malignant neoplasm of lung Common 5p15.33 and 6p21.33 variants influence lung cancer risk. GWASCAT 18978787 Detail
0.133 Malignant neoplasm of lung Deciphering the impact of common genetic variation on lung cancer risk: a genome... GWASCAT 19654303 Detail
<0.001 Degenerative polyarthritis Family with sequence similarity 46, member A (FAM46A) gene VNTR and BCL2-Associa... BeFree 25231575 Detail
<0.001 Osteoarthritis of hip Susceptibility to large-joint osteoarthritis (hip and knee) is associated with B... BeFree 25231575 Detail
0.120 Malignant neoplasm of lung Deciphering the impact of common genetic variation on lung cancer risk: a genome... GWASCAT 19654303 Detail
<0.001 Carcinoma of lung We found also that BAG6 rs3117582 SNP was associated with non small cell lung ca... BeFree 25884493 Detail
0.133 Malignant neoplasm of lung Common 5p15.33 and 6p21.33 variants influence lung cancer risk. GWASCAT 18978787 Detail
<0.001 Non-small cell lung carcinoma Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell ... BeFree 25884493 Detail
<0.001 Osteoarthritis of hip Susceptibility to large-joint osteoarthritis (hip and knee) is associated with B... BeFree 25231575 Detail
0.003 Degenerative polyarthritis Family with sequence similarity 46, member A (FAM46A) gene VNTR and BCL2-Associa... BeFree 25231575 Detail
0.002 Malignant neoplasm of lung [Common 5p15.33 and 6p21.33 variants influence lung cancer risk.] GAD 18978787 Detail
0.122 Adenocarcinoma of lung (disorder) [a lung cancer GWAS identified a distinct hereditary contribution to adenocarcin... GAD 19836008 Detail
0.122 Adenocarcinoma of lung (disorder) A genome-wide association study of lung cancer identifies a region of chromosome... GWASCAT 19836008 Detail
0.122 Adenocarcinoma of lung (disorder) [a lung cancer GWAS identified a distinct hereditary contribution to adenocarcin... GAD 19836008 Detail
0.133 Malignant neoplasm of lung BAT3 rs1052486 and rs3117582 polymorphisms are associated with lung cancer risk:... BeFree 24989925 Detail
<0.001 Carcinoma of lung BAT3 rs1052486 and rs3117582 polymorphisms are associated with lung cancer risk:... BeFree 24989925 Detail
<0.001 tuberculosis Association of variable number of tandem repeats in the coding region of the FAM... BeFree 24625963 Detail
<0.001 tuberculosis Association of variable number of tandem repeats in the coding region of the FAM... BeFree 24625963 Detail
Annotation

Annotations

DescrptionSourceLinks
To examine if variation at any of these loci influences the risk of lung cancer in never-smokers, we... DisGeNET Detail
Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell lung cancer (NSCLC) ... DisGeNET Detail
[Common 5p15.33 and 6p21.33 variants influence lung cancer risk.] DisGeNET Detail
[Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association s... DisGeNET Detail
We found also that BAG6 rs3117582 SNP was associated with non small cell lung cancer in the Norwegia... DisGeNET Detail
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated wit... DisGeNET Detail
Common 5p15.33 and 6p21.33 variants influence lung cancer risk. DisGeNET Detail
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association st... DisGeNET Detail
Family with sequence similarity 46, member A (FAM46A) gene VNTR and BCL2-Associated Athanogene 6 (BA... DisGeNET Detail
Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP an... DisGeNET Detail
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association st... DisGeNET Detail
We found also that BAG6 rs3117582 SNP was associated with non small cell lung cancer in the Norwegia... DisGeNET Detail
Common 5p15.33 and 6p21.33 variants influence lung cancer risk. DisGeNET Detail
Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell lung cancer (NSCLC) ... DisGeNET Detail
Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP an... DisGeNET Detail
Family with sequence similarity 46, member A (FAM46A) gene VNTR and BCL2-Associated Athanogene 6 (BA... DisGeNET Detail
[Common 5p15.33 and 6p21.33 variants influence lung cancer risk.] DisGeNET Detail
[a lung cancer GWAS identified a distinct hereditary contribution to adenocarcinoma.] DisGeNET Detail
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated wit... DisGeNET Detail
[a lung cancer GWAS identified a distinct hereditary contribution to adenocarcinoma.] DisGeNET Detail
BAT3 rs1052486 and rs3117582 polymorphisms are associated with lung cancer risk: a meta-analysis. DisGeNET Detail
BAT3 rs1052486 and rs3117582 polymorphisms are associated with lung cancer risk: a meta-analysis. DisGeNET Detail
Association of variable number of tandem repeats in the coding region of the FAM46A gene, FAM46A rs1... DisGeNET Detail
Association of variable number of tandem repeats in the coding region of the FAM46A gene, FAM46A rs1... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3117582 dbSNP
Genome
hg38
Position
chr6:31,652,743-31,652,743
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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