chr12:89666809:G>A Detail (hg38) (ATP2B1)

Information

Genome

Assembly Position
hg19 chr12:90,060,586-90,060,586 View the variant detail on this assembly version.
hg38 chr12:89,666,809-89,666,809

HGVS

Type Transcript Protein
RefSeq NM_001001323.1:c.-221-10702C>T
Ensemble ENST00000359142.8:c.-221-10702C>T
ENST00000428670.8:c.-221-10702C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.369
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 108731 OMIM
HGNC 814 HGNC
Ensembl ENSG00000070961 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv46747391 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
0.333 Hypertensive disease The present study confirmed the significant association of ATP2B1 rs17249754 wit... BeFree 23759979 Detail
0.013 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.012 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.001 obesity In the obese group, 3 SNPs and the GRS were significantly associated with higher... BeFree 23591986 Detail
0.012 Hypertensive disease The present study confirmed the significant association of ATP2B1 rs17249754 wit... BeFree 23759979 Detail
0.115 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.002 Hypertensive disease In contrast, in inactive group, two polymorphisms and genetic risk score were si... BeFree 23102448 Detail
0.333 Hypertensive disease We also observed a significant association of 4 SNPs and the GRS with hypertensi... BeFree 23591986 Detail
0.129 Blood pressure finding [Meta-analysis of genome-wide association studies identifies common variants ass... GAD 21572416 Detail
0.333 Hypertensive disease Genome-wide association study in Chinese identifies novel loci for blood pressur... GWASCAT 25249183 Detail
0.129 Blood pressure finding [Genome-wide association study identifies six new loci influencing pulse pressur... GAD 21909110 Detail
0.129 Systemic arterial pressure Genome-wide association study meta-analysis reveals transethnic replication of m... GWASCAT 24001895 Detail
0.129 Systemic arterial pressure Meta-analysis of genome-wide association studies identifies common variants asso... GWASCAT 21572416 Detail
0.129 Systemic arterial pressure [A large-scale genome-wide association study of Asian populations uncovers genet... GAD 19396169 Detail
0.129 Blood pressure finding Genome-wide association study identifies six new loci influencing pulse pressure... GWASCAT 21909110 Detail
0.129 Blood pressure finding Genome-wide association study meta-analysis reveals transethnic replication of m... GWASCAT 24001895 Detail
0.129 Systemic arterial pressure Genome-wide association study identifies six new loci influencing pulse pressure... GWASCAT 21909110 Detail
0.129 Systemic arterial pressure [Meta-analysis of genome-wide association studies identifies common variants ass... GAD 21572416 Detail
0.129 Blood pressure finding Meta-analysis of genome-wide association studies identifies common variants asso... GWASCAT 21572416 Detail
0.129 Systemic arterial pressure [Genome-wide association study identifies six new loci influencing pulse pressur... GAD 21909110 Detail
0.129 Blood pressure finding [A large-scale genome-wide association study of Asian populations uncovers genet... GAD 19396169 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
<0.001 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
0.120 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
0.333 Hypertensive disease Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs20... BeFree 24142389 Detail
Annotation

Annotations

DescrptionSourceLinks
The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertensi... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
In the obese group, 3 SNPs and the GRS were significantly associated with higher SBP (ATP2B1 rs17249... DisGeNET Detail
The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertensi... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
In contrast, in inactive group, two polymorphisms and genetic risk score were significantly associat... DisGeNET Detail
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs1724975... DisGeNET Detail
[Meta-analysis of genome-wide association studies identifies common variants associated with blood p... DisGeNET Detail
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. DisGeNET Detail
[Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial ... DisGeNET Detail
Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pul... DisGeNET Detail
Meta-analysis of genome-wide association studies identifies common variants associated with blood pr... DisGeNET Detail
[A large-scale genome-wide association study of Asian populations uncovers genetic factors influenci... DisGeNET Detail
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial p... DisGeNET Detail
Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pul... DisGeNET Detail
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial p... 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
[Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial ... DisGeNET Detail
[A large-scale genome-wide association study of Asian populations uncovers genetic factors influenci... 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
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
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
rs17249754 dbSNP
Genome
hg38
Position
chr12:89,666,809-89,666,809
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))
rs17249754
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3689
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6182
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser