Links to SNPedia
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
Publications on this SNP on the Public Library of Science:
Publications on this SNP on Mendeley
Evidence compiled by the Personal Genome Project
Gene |
Impact |
Trait |
Summary |
Inheritance |
H6PD |
Low clinical importance, Uncertain pathogenic |
|
This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). |
recessive |
Publications listed by Genome.gov
There are no results from genome.gov yet. Please come back later.
Users who share this SNP: