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

posted on 2021-10-22, 04:30 authored by Kathryn BurdonKathryn Burdon, Alex Hewitt, David Mackey, Paul Mitchell, Jamie CraigJamie Craig
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
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:
SNP name
Position in centiMorgans
Position in basepairs

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


A genome-wide association study in 2000 glaucoma cases with matched controls using equimoloar DNA pools

National Health and Medical Research Council

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Primary contact

Dr Kathryn Burdon, kathryn.burdon@flinders.edu.au

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