Data

Tag single nucleotide polymorphisms (SNPs) in CYP1B1 - investigation of effect on Primary Open Angle Glaucoma (POAG) dataset

Flinders University
Alex Hewitt (Aggregated by) David Mackey (Aggregated by) Jamie Craig (Aggregated by) Kathryn Burdon (Aggregated by) Kathryn Penelope Burdon (Aggregated by)
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ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Adc&rfr_id=info%3Asid%2FANDS&rft_id=info:doi10.25451/flinders.16545561.v1&rft.title=Tag single nucleotide polymorphisms (SNPs) in CYP1B1 - investigation of effect on Primary Open Angle Glaucoma (POAG) dataset&rft.identifier=10.25451/flinders.16545561.v1&rft.publisher=Flinders University&rft.description=This dataset comprises cleaned, standard genetics data of the CYP1B1 gene from 1810 samples. Seven tag single nucleotide polymorphisms (SNPs), including two coding variants (L432V and N543S), were genotyped in 860 primary open angle glaucoma (POAG) cases and 898 examined normal controls. Each SNP and haplotype was assessed for association with disease.Relevant column headings for the *.ped file are:Family IDIndividual IDFather IDMother IDSexAffection statusThen the remainder describe genotypes at single nucleotide polymorphisms, as described in the *.map file, 2 columns per SNPIn the *.map file:ChromosomeSNP namePosition in centiMorgansPosition in basepairsDate coverage: 2010-01-01 - 2010-06-30Location: Australia&rft.creator=Alex Hewitt&rft.creator=David Mackey&rft.creator=Jamie Craig&rft.creator=Kathryn Burdon&rft.creator=Kathryn Penelope Burdon&rft.creator=Paul Mitchell&rft.date=2013&rft_rights= https://creativecommons.org/licenses/by/4.0/&rft_subject=Ophthalmology&rft_subject=Statistical and quantitative genetics&rft_subject=Gene frequency&rft_subject=Linkage Disequilibrium&rft_subject=Cytochrome P-450 Enzyme System&rft_subject=Aryl Hydrocarbon Hydroxylases&rft_subject=Quantitative Genetics (incl. Disease and Trait Mapping Genetics)&rft.type=dataset&rft.language=English Access the data
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Full description

This dataset comprises cleaned, standard genetics data of the CYP1B1 gene from 1810 samples. Seven tag single nucleotide polymorphisms (SNPs), including two coding variants (L432V and N543S), were genotyped in 860 primary open angle glaucoma (POAG) cases and 898 examined normal controls. Each SNP and haplotype was assessed for association with disease.

Relevant column headings for the *.ped file are:
Family ID
Individual ID
Father ID
Mother ID
Sex
Affection status

Then the remainder describe genotypes at single nucleotide polymorphisms, as described in the *.map file, 2 columns per SNP

In the *.map file:
Chromosome
SNP name
Position in centiMorgans
Position in basepairs

Date coverage: 2010-01-01 - 2010-06-30
Location: Australia

Issued: 12 09 2013

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Subjects
Aryl Hydrocarbon Hydroxylases | Cytochrome P-450 Enzyme System | Gene frequency | Linkage Disequilibrium | Ophthalmology | Quantitative Genetics (incl. Disease and Trait Mapping Genetics) | Statistical and quantitative genetics |

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