chr15:74785026:C>A Detail (hg38) (CSK)

Information

Genome

Assembly Position
hg19 chr15:75,077,367-75,077,367 View the variant detail on this assembly version.
hg38 chr15:74,785,026-74,785,026

HGVS

Type Transcript Protein
RefSeq NM_004383.2:c.-66+2306C>A
NM_001127190.1:c.-66+2306C>A
Ensemble ENST00000220003.14:c.-66+2306C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.206
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 124095 OMIM
HGNC 2444 HGNC
Ensembl ENSG00000103653 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53547766 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
0.127 Systemic arterial pressure [Genetic variants in novel pathways influence blood pressure and cardiovascular ... GAD 21909115 Detail
0.127 Blood pressure finding Genome-wide association study identifies six new loci influencing pulse pressure... GWASCAT 21909110 Detail
0.127 Blood pressure finding [Genome-wide association study identifies eight loci associated with blood press... GAD 19430483 Detail
0.127 Systemic arterial pressure [Genome-wide association study identifies six new loci influencing pulse pressur... GAD 21909110 Detail
0.127 Systemic arterial pressure [Genome-wide association study identifies eight loci associated with blood press... GAD 19430483 Detail
0.127 Blood pressure finding [Genetic variants in novel pathways influence blood pressure and cardiovascular ... GAD 21909115 Detail
0.127 Systemic arterial pressure Genome-wide association study identifies six new loci influencing pulse pressure... GWASCAT 21909110 Detail
0.127 Blood pressure finding [Genome-wide association study identifies six new loci influencing pulse pressur... GAD 21909110 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
[Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.] DisGeNET Detail
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial p... DisGeNET Detail
[Genome-wide association study identifies eight loci associated with blood pressure.] DisGeNET Detail
[Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial ... DisGeNET Detail
[Genome-wide association study identifies eight loci associated with blood pressure.] DisGeNET Detail
[Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.] DisGeNET Detail
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial p... DisGeNET Detail
[Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1378942 dbSNP
Genome
hg38
Position
chr15:74,785,026-74,785,026
Variant Type
snv
Reference Allele
C
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))
rs1378942
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2057
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3448
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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