openSNP | rs17602729

Links to SNPedia

Title	Summary
rs17602729 T/T	Ampd1 deficiency homozygous
rs17602729 C/G	Unexpected genotype
rs17602729 G/G	Normal (orientation reversed)
rs17602729 A/T	Really unexpected!
rs17602729 A/A	Ampd1 deficiency homozygous (orientation reversed)
rs17602729 C/T	Ampd1 deficiency heterozygous
rs17602729 C/C	Normal
rs17602729 A/G	Ampd1 deficiency heterozygous (orientation reversed)
rs17602729 G/T	Unexpected genotype
rs17602729 A/C	Unexpected genotype

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:

First Author	Title	Year of Publication	# of readers
Yumi Yamaguchi-Kabata	Distribution and Effects of Nonsense Polymorphisms in Human Genes	2008	6566
Hong-Hee Won	Cataloging Coding Sequence Variations in Human Genome Databases	2008	4886
Rebecca Grealy	Evaluation of a 7-Gene Genetic Profile for Athletic Endurance Phenotype in Ironman Championship Triathletes	2015	4679

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
Bart P Ramakers	Circulating adenosine increases during human experimental endotoxemia but blockade of its receptor does not influence the immune response and subsequent organ injury.	2011	7	10.1186/cc9400
Nir Eynon	Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way.	2013	7	10.1007/s40279-013-0059-4
Bart P Ramakers	Circulating adenosine increases during human experimental endotoxemia but blockade of its receptor does not influence the immune response and subsequent organ injury.	2011	8	10.1186/cc9400

Evidence compiled by the Personal Genome Project

Gene	Impact	Trait	Summary	Inheritance
AMPD1	Low clinical importance, Likely pathogenic		Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.	recessive

Publications listed by Genome.gov

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Name	rs17602729
Chromosome	1
Position	114693436
Weight of evidence	61

SNP rs17602729

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

Contacts