Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs541098659
rs541098659
PNPLA6
0.700 GeneticVariation UNIPROT Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. 25033069

2014
dbSNP: rs541098659
rs541098659
PNPLA6
0.700 GeneticVariation UNIPROT PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 24355708

2014