chr4:80263187:A>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr4:81,184,341-81,184,341 View the variant detail on this assembly version.
hg38 chr4:80,263,187-80,263,187

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.300
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
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
<0.001 Hypertensive disease The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-r... BeFree 20852445 Detail
0.012 Hypertensive disease The present study confirmed the significant association of ATP2B1 rs17249754 wit... BeFree 23759979 Detail
0.002 Hypertensive disease In contrast, in inactive group, two polymorphisms and genetic risk score were si... BeFree 23102448 Detail
0.002 Hypertensive disease The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-r... BeFree 20852445 Detail
0.007 Blood pressure finding [Genome-wide association study identifies eight loci associated with blood press... GAD 19430483 Detail
0.007 Systemic arterial pressure [Genome-wide association study identifies eight loci associated with blood press... GAD 19430483 Detail
0.002 Hypertensive disease Effect size of FGF5-rs16998073 on SBP and hypertension were significantly more p... BeFree 20852445 Detail
0.013 Hypertensive disease The present meta-analysis indicated significant associations of both CYP17A1 rs1... BeFree 22959498 Detail
Annotation

Annotations

DescrptionSourceLinks
The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertensi... DisGeNET Detail
The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-r... DisGeNET Detail
The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertensi... DisGeNET Detail
In contrast, in inactive group, two polymorphisms and genetic risk score were significantly associat... DisGeNET Detail
The genetic risk score, calculated as the sum of BP-increasing alleles of FGF5-rs16998073, CYP17A1-r... DisGeNET Detail
[Genome-wide association study identifies eight loci associated with blood pressure.] DisGeNET Detail
[Genome-wide association study identifies eight loci associated with blood pressure.] DisGeNET Detail
Effect size of FGF5-rs16998073 on SBP and hypertension were significantly more pronounced in Han Chi... DisGeNET Detail
The present meta-analysis indicated significant associations of both CYP17A1 rs11191548 and FGF5 rs1... DisGeNET Detail
Gene
-
dbSNP
rs16998073 dbSNP
Genome
hg38
Position
chr4:80,263,187-80,263,187
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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))
rs16998073
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2996
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5021
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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