Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934908
rs28934908
0.020 GeneticVariation BEFREE The p.Ala140Val mutation is recurrent, as it was already described in 4 families with X-linked mental retardation and in three sporadic male patients with intellectual disability. 27465203

2016

dbSNP: rs28934908
rs28934908
0.020 GeneticVariation BEFREE In addition to data published by others, this suggests that A140V is a recurrent mutation (and not a polymorphism) found in patients with X-linked mental retardation. 12325019

2002