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SNP: rs183211
linkouts : SNPedia
Nearby Genes
NSF - N-ethylmaleimide-sensitive factorPLEKHM1 - pleckstrin homology domain containing, family M (with RUN domain) member 1
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Associated Traits (number of studies)
Parkinson's disease (1)Ovarian cancer in BRCA1 mutation carriers (1)Epithelial ovarian cancer (1)Association Studies
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Search Results from Open Access Papers
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