chr17:67947596:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr17:67,947,596-67,947,596
hg38 chr17:69,951,455-69,951,455 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.948
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
<0.001 Metabolic syndrome X In a marker-by-marker analysis, the ADRB2 rs180088 (OR 1.22, 95% CI 1.01-1.48) a... BeFree 19619703 Detail
0.016 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
0.015 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
0.013 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
0.003 Metabolic syndrome X In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088... BeFree 19619703 Detail
Annotation

Annotations

DescrptionSourceLinks
In a marker-by-marker analysis, the ADRB2 rs180088 (OR 1.22, 95% CI 1.01-1.48) and PAI1 rs1799768 (O... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
In postmenopausal women, an increased MetS risk was found for the ADRB2 rs180088 (OR 1.28, 95% CI 0.... DisGeNET Detail
Gene
-
dbSNP
rs180088 dbSNP
Genome
hg19
Position
chr17:67,947,596-67,947,596
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs180088
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9484
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15896
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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