Genetics Research
rs72653706
Arginine 1141 → Stop
Gene: ABCC6 — ATP Binding Cassette Subfamily C Member 6
Chr 16:16163078
16p13.11
Stop Gained
Population Frequencies7
African
G 0.99981A 0.00019GG 0.999621GA/AG 0.000379AA 0pop=31,648
African American
G 0.9998A 0.0002GG 0.999604GA/AG 0.000396AA 0pop=30,308
European
G 0.997743A 0.002257GG 0.995486GA/AG 0.004514AA 0pop=229,052
Latin American 2
G 0.9988A 0.0012GG 0.997973GA/AG 0.001621AA 0.000405pop=4,934
Other
G 0.99799A 0.00201GG 0.996075GA/AG 0.00383AA 0.000096pop=20,890
South Asian
G 0.996A 0.004GG 0.992044GA/AG 0.007956AA 0pop=3,268
Studies10
Unread Studies10 ▼
1
Direct oral anticoagulants (DOACs) are first-line medications for stroke prevention in non-valvular atrial fibrillation (AF). However, variability in drug response poses risks of …
2
Direct oral anticoagulants (DOACs) are first-line medications for stroke prevention in non-valvular atrial fibrillation (AF). However, variability in drug response …
3
Whole-exome DNA sequencing is a rich source of clinically useful information for specialists, patients, and their families, as well as elucidating the genetic basis of monogenic and …
4
The potential role of genetic alterations in cervical artery dissection (CeAD) pathogenesis is poorly understood. We aimed to identify pathogenic genetic variants associated …
5
… of them (rs72653706 and rs201680145). In particular, the variant rs72653706, selected as a … found to be heterozygous for the rs72653706 variant and was affected by Pseudoxanthoma …
6
To present en face optical coherence tomography (OCT) images generated by graph-search theory algorithm-based custom software and examine correlation with other …
7
Pseudoxanthoma elasticum (PXE) ist eine autosomal rezessive Erkrankung des Bindegewebes, welche durch progressive Kalzifizierung und Fragmentierung der elastischen Fasern in …
8
Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection …
9
… The most common recurrent PXE mutation, R1141X (rs72653706), accounts for more than 30% of all PXE mutations in the homozygous or compound heterozygous state in Caucasians…
10
… To confirm the increase in allele frequency of the identified variants, we directly genotyped two of them (rs72653706 and rs201680145). In particular, the variant rs72653706, selected …
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
No curated studies yet.
Unused Studies0 ▼
No unused studies.