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:
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Publications on this SNP on Mendeley
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Evidence compiled by the Personal Genome Project
Gene |
Impact |
Trait |
Summary |
Inheritance |
SPTA1 |
Low clinical importance, Uncertain benign |
|
This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral. |
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Publications listed by Genome.gov
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Users who share this SNP: