Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434409
rs121434409
GLE1 ; LOC101929270
0.010 GeneticVariation BEFREE A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. 28657126

2018